2024 MCRI Annual Report

Murdoch Children’s Research Institute (MCRI) acknowledges the Wurundjeri people, the Traditional Owners of the land on which MCRI is located. We pay our respects to their elders, past and present.

OUR COVER: Summer, 4, has the rare disease KIF1A-associated neurological disorder (KAND), a progressive disease that affects the brain, muscles and nerves. Read more on page 11.

1

2 Research excellence

3 Living our values

4 Securing their future

I am delighted to present the 2024 Murdoch Children’s Research Institute (MCRI) Annual Report, reflecting on a year of remarkable achievements across the Institute.

Our talented researchers and our dedicated support staff are driven by our core values of courage, collaboration and integrity. Their collective efforts have kept us at the forefront of children’s medical research internationally, and I am immensely proud of the progress we have made together.

Over the past year, we have continued to expand our work in Generation Victoria (GenV), a landmark initiative aimed at improving the health and wellbeing of future generations. GenV has now recruited nearly 125,000 participants, including almost 50,000 children, creating a national resource of international significance that will underpin public health research for decades to come. Excitingly, GenV is partnering with the ORIGINS study in Western Australia to bring together the breadth and depth of our cohorts to tackle Australia’s most pressing health challenges. This collaboration exemplifies our ongoing commitment to strong and productive partnerships to achieve greater outcomes. We will continue to follow this cohort throughout early childhood, and we are planning our next indepth evaluation at school entry.

GenV recently added environmental measures to its suite of data, which will provide much-needed insights into how we adapt and respond to a warming climate, bushfires, floods and air pollution, and the effect on our future health. This oncein-a-generation initiative would not be possible without significant backing from the Victorian government, the Paul Ramsay Foundation and The Royal Children’s Hospital Foundation.

Director’s report

Inherited rare disease remains a leading cause of death and disability in children, and we continue to work at the forefront of gene discovery and the development of precision therapies. We also have an increasing focus on prevention and early intervention through innovations in newborn, pregnancy and preconception screening with our subsidiary, Victorian Clinical Genetics Services.

We are working closely with the leaders in children’s research internationally as part of the International Precision Child Health Partnership (IPCHiP). The next phase for IPCHiP will focus on the causes of floppy baby syndrome, promising to provide much-needed answers and support to affected families.

This project reflects our commitment to solving the most challenging child health issues with cutting-edge science, while always treating our patients and their families with compassion and integrity.

At MCRI, we are leading the National Allergy Centre of Excellence focused on translating research into mainstream care in Australia. Our efforts have already transformed the lives of thousands of children, with the ultimate goal of making these treatments equitably accessible to all who need them.

Our pioneering work in childhood heart disease leverages world-leading expertise in stem cell medicine and artificial intelligence. This has created new opportunities to drive future heart failure treatments, providing hope for countless families.

We are also forging ahead with human challenge trials for Strep A vaccine candidates, a critical step in our fight against this pervasive pathogen. Strep A contributes to rheumatic heart disease, and heart and kidney failure in disadvantaged populations. Our collaborations in The Gambia attest to our commitment to global health and ensuring that our research benefits children worldwide. These partnerships are vital in our quest to develop effective vaccines and improve health outcomes on a global scale, showcasing our collaborative spirit.

Our Institute’s success is built on strong partnerships with esteemed organisations such as the Wellcome Trust, Gates Foundation, Novo Nordisk Foundation, Paul G. Allen Frontiers Group, and The Chan Zuckerberg Initiative, among many others. These collaborations have been instrumental in advancing our research and expanding our impact. We are excited to continue and deepen these relationships in the coming year, driven by our shared values.

MCRI has also made strides in meeting and exceeding our obligations to achieve Bronze Award status as part of the international Athena Swan process, reflecting our commitment to equity, diversity and inclusion across the Institute. Together with our Campus partners, The Royal Children’s Hospital and the University of Melbourne Department of Paediatrics, we continue to stand with and support our LGBTIQA+ staff, students, patients and families, recognising that diversity is a hallmark of successful organisations.

As we reflect on our achievements, I want to extend my heartfelt gratitude to all our dedicated staff and students, honoraries, Board and committee members and committed donors. Your unwavering support and generosity continue to underpin our success. While we face some challenging headwinds, the underlying fundamentals of the Institute remain sound. Rest assured that the Board, our support teams and I are fully committed to navigating these challenges and ensuring our continued success with courage, collaboration and integrity.

Together, we will continue to push the boundaries of children’s medical research, transforming the lives of families here and around the world. Thank you for your ongoing support and dedication to our mission.

All best wishes, Professor Kathryn

North AC  Director, Murdoch Children’s

Research Institute

Chair’s report

Let me open this year’s Annual Report by thanking Kathryn and the Institute’s senior leaders for their astute guiding hand, ensuring that medical research remains a top priority in national conversations and international endeavours. At home, we know that the financial sustainability of Australian medical research institutes is at very high risk.

In 2024, the funding gap for the full costs of research at Victorian institutes alone was more than $200 million. This is expected to rise to more than $370 million by 2029. Across Australian institutes, the gap is $786 million. For every dollar of research grant funding received, Victoria’s medical research institutes must find an additional 48 cents to meet the indirect costs of that research. MCRI is no exception.

Without a substantial increase in funding for the indirect costs of research, many Victorian institutes will be financially unviable by 2028, due to this rapid and increasing funding gap.

Therefore, I would like to recognise and appreciate the difficult and complex work done to date by MCRI’s senior leadership to ensure the Institute is not only well placed to weather this current difficult period but is now positioned to thrive.

I would also like to thank our fellow directors, members of the Development Board and Global Advisory Board, as well as our esteemed Council of Ambassadors, for their contributions to raising MCRI’s profile in business, government and philanthropic circles in Victoria, Australia and around the world.

As Chair, I welcome Dr Peter Steer as incoming CEO of The Royal Children’s Hospital and board member of MCRI. Peter brings to the Campus a wealth of experience in empowering research spaces within healthcare settings and we

look forward to an even stronger clinicalresearch relationship with the Hospital. I also acknowledge and thank Bernadette McDonald for her outstanding service to the Hospital and our Board and wish her every success in future endeavours.

One initiative that never fails to pique my interest is our rare disease research, with its overlap with clinical care provided by the Hospital. I’m sure you’ll agree that Summer’s story, as featured on this year’s cover, is compelling. I’m greatly looking forward to further advances in this area in coming years.

Sarah and I are as excited and energised as ever to ensure this remarkable Institute continues to have the resources and the capacity to deliver on our purpose – to give all children the opportunity to live a healthy and fulfilled life.

Patrick Houlihan  Board Chair, MCRI

Co-chair’s report

Welcome to MCRI’s 2024 Annual Report – yet another issue filled with compelling stories and cutting-edge breakthroughs at the Institute. I often say that in Australia we punch well above our weight in science and this year is no exception. We should be so proud of the world-leading work being done here.

We do this work with a fraction of the funding our peers receive in other parts of the world. Echoing Patrick’s comments, as Board Chair and Co-Chair, we are acutely aware of the funding constraints in the current environment and are working tirelessly to help MCRI diversify and increase its revenue streams.

Our long term track record shows that we leverage every dollar sevenfold.

MCRI is a global leader. For every year of the last 10, our researchers have positioned us within the top three children’s medical research institutes in the world.

This measure of global impact is an incredible achievement – one to celebrate and to be proud of.

Notable recent examples include the launch of a collaborative project with Gladstone Institutes, Decoding Broken Hearts. Taking patient-donated stem cells and turning them into heart tissue, Professor Enzo Porrello and his team are working with leading artificial intelligence researchers at Gladstone Institutes in San Francisco to define the disease pathways leading to heart failure and use that data to discover next-generation treatments.

The collaboration will also be powered by an international researcher exchange funded by the American Australian Association, again deepening the connections between our two great scientific nations.

To support this and other exciting initiatives, we held events at the Milken Global

Conference and with AusTrade in Los Angeles, attended the Tenmile Healthtech Muster and the South by Southwest Sydney event, where I hosted a panel on how genomics, data science and advanced therapeutics will drive future medical breakthroughs.

The Trustees of the Stafford Fox Medical Research Foundation visited us to celebrate a decade of the Foundation’s generosity, especially valuable in helping establish and expand our world-leading stem cell derivation, disease modelling and drug discovery facilities.

Across the organisation we remain incredibly optimistic that MCRI’s researchers, students, support staff and supporters will continue to strive to make significant breakthroughs for infants, children and adolescents in Australia and around the world.

Please enjoy reading about just some of these achievements in the 2024 MCRI Annual Report.

Sarah Murdoch  Board Co-Chair, MCRI

Our purpose

To give all children the opportunity to live a healthy and fulfilled life.

1 Research impact

MCRI is an impact organisation powered by research. From fundamental discoveries to developing and trialling new therapies and interventions, our scientists, researchers and clinicians strive to tackle the big issues in child and adolescent health. We are at the forefront of advances in areas such as artificial intelligence while never forgetting the primacy of advocating for our most important stakeholders –the infants, children and teenagers we aim to help.

Hope for a brighter future

Like her older siblings, Summer has learnt to sit, crawl and grasp objects. But unlike Jasmine and Tyson, any developmental milestones Summer gains she will cruelly lose.

The four-year-old has the rare disease KIF1A-associated neurological disorder (KAND), a progressive disease that affects the brain, muscles and nerves. Likened to childhood dementia, it leads to developmental delays and neurological symptoms, including intellectual disability, muscle stiffness, vision problems and seizures.

Summer has taught herself to walk but it’s just for a few steps at a time unaided. She relies on a walker or support from her parents Jeanette and David.

“Summer only started crawling at 16 months old and she had a habit of bumping into objects, which left bruises on her forehead,” Jeanette said.

“The initial diagnosis was global developmental delay, but we were certain there was something more going on with our little girl.

“While Summer’s early brain scans appeared normal, they detected an issue with her optic nerve. A followup eye scan confirmed optic nerve atrophy, which has greatly affected her vision.”

Summer was referred for genetic testing, which involved an almost year-long wait for the results to return from the United States.

“We were desperate for answers, but it was still devastating when Summer was eventually diagnosed with KAND,” Jeanette said. “Heartbreakingly, as she ages, Summer will only go backwards and lose key physical and mental skills she has gained.”

After taking time to process the diagnosis, the family joined the international support group KIF1A. ORG, from which they learnt about MCRI’s world-leading research efforts.

“Finding out that MCRI was working towards finding new treatments and improving diagnosis times for KAND, right here in Australia, helped galvanise our family last year to start a foundation,” David said.

“The KIF1A Australia Foundation aims to fund future breakthroughs made by the MCRI team and build a hightech, inclusive school for children with complex needs.”

MCRI is at the forefront of research into KAND, being one of the few institutes in Australia with in-house capacity to leverage cutting-edge genetic technologies to identity more rapidly and accurately the gene variants that cause KAND.

“Our goal is to accelerate the diagnosis and treatment options to allow for more timely interventions and improved health outcomes,” Dr Simran Kaur said, who is leading Australia’s first KAND research program in collaboration with national and international partners.

“By understanding the disease better, we can identify biomarkers and new therapies that specifically target the cause of KAND. These advances will improve the quality of life for this vulnerable group of children.

“We are also co-designing and advancing this program in close partnership with KAND families, ensuring their voices are at the heart of every initiative.”

Dr Kaur said the ultimate goal was to cure KAND through gene therapy.

“This therapy would see the affected KIF1A gene replaced with a healthy version, helping to reverse the dementia-like symptoms and helping affected children regain their motor skills and eyesight,” she said.

Despite the many challenges that come with KAND, Jeanette said Summer was adored and was a happy, affectionate child.

“It can be isolating when your child has a rare disease, but any time we get with Summer is a blessing,” she said. “Summer reminds us that life is still fun and joyful. She is our ray of sunshine.

“I sincerely hope that one day there is a treatment that can control or even reverse KAND symptoms and the developmental regression, not just for Summer but every child in the world with this disease. All we can do is cling to that hope.”

LEFT: Summer can take a few steps unaided, but relies on her walker.

FAR LEFT: Summer with her family.

Enabling research that makes a difference

Murdoch Children’s Research Institute is committed to ensuring that research delivers meaningful, equitable benefits for children, families and communities. That commitment is reflected in an Institute-wide approach to research impact and consumer and community involvement – work that strengthens the quality, relevance and reach of MCRI’s ground-breaking science.

We are intentionally building the culture, capability and capacity of the Institute to embed these principles in every part of the research life-cycle – from idea to implementation, and from the lab to lived experience.

A CULTURE IN WHICH RESEARCHERS FLOURISH

MCRI provides structured supports for researchers to plan for, evaluate and maximise the impact of their work. This includes building the skills and systems needed to support diverse impact pathways.

By strategically embedding impact and involvement in grant and ethics applications, consulting and supporting our Themes and Flagships, and through the delivery of our award-winning training and education programs, MCRI ensures we are well placed to deliver transformational change.

Impact is not a one-size-fits-all outcome – it can mean informing guidelines, improving care, strengthening partnerships or shifting systems. Our focus is on enabling the conditions for impact to flourish – whether through co-design, knowledge mobilisation, implementation science, commercialisation, advocacy or systems change.

We also foster thriving Communities of Practice, peer-learning networks that strengthen collective capability, nurture leadership and create space to reflect on ethics, inclusion and social value.

At the national level, MCRI plays a leading role in advancing the field, including leadership of the Association of Australian Medical Research Institutes’ Research Impact Committee, and contributing to sector-wide reforms in clinical trials, ethics streamlining and consumer involvement.

PUTTING CHILDREN’S VOICES AT THE HEART OF EVERYTHING WE DO

This year, we completed the Voice of the Child project, a landmark resource developed with the Centre for Community Child Health to support the meaningful involvement of children in research and service delivery. Grounded in the UN Convention on the Rights of the Child, this work builds organisational capability and confidence to listen to, learn from and act on children’s perspectives.  This work supports a long-term cultural shift in helping to ensure that children’s voices are not only welcomed, but embedded in the ways we think about, plan and undertake research. This is central to our purpose of giving all children the opportunity to live a healthy and fulfilled life.

PARTNERING WITH CHILDREN, YOUNG PEOPLE AND FAMILIES

MCRI believes research is most powerful when it reflects the needs and priorities of those it seeks to benefit. We are deepening partnerships with children, young people and families across the Institute’s research portfolio, co-developing training, resources and involvement pathways that are inclusive, respectful and equitable.

We are investing in infrastructure, networks and cultural change to embed involvement meaningfully and sustainably. Our Consumer Involvement Network now includes more than 150 members, enriching studies, strategies and governance across the Institute.

Together with our Campus partners – The Royal Children’s Hospital and the University of Melbourne – we are building a shared culture of partnership and accountability across the areas of research, care and education.

ADVANCING LGBTIQA+ INCLUSION AND ADVOCACY

MCRI is proud to support the Melbourne Children’s LGBTIQA+ Inclusion and Advocacy Strategy – a Campus-wide initiative that aims to ensure all LGBTIQA+ staff, students, patients and research participants feel safe, respected and represented.

The strategy, which was launched in 2023 with the support of The Royal Children’s Hospital Foundation, responds directly to the lived experiences and needs of LGBTIQA+ communities, and supports systemic improvements across clinical care, research design, staff education and inclusion initiatives.

This work is grounded in a vision for a fairer health system – and the recognition that building cultural safety and institutional capability is essential to advancing equity for LGBTIQA+ children, young people and families.

A VISION FOR SYSTEMIC CHANGE

Our vision is for research that not only generates new knowledge but creates a fairer and healthier world for all children.

Through strategic leadership and sustained investment that embraces impact, involvement and inclusion, MCRI is working to build a research culture that values lived experience, upholds human rights and connects discovery to change.

Together, we are creating the capability, confidence and collective power to ensure that every child can thrive.

Research impact: How MCRI stacks up

We are forever striving to produce highquality research outputs and extend our reach. Publication metrics in 2024 again affirmed the breadth and high quality of MCRI’s research output.

RESEARCH PUBLICATIONS

1,281 peer-reviewed papers

4,309 total citations

H-index = 17

(17 papers were cited 17 times or more)

42 rapidly cited papers

(Articles cited over 20 times by other publications in the same year, indicating the paper is being widely read and influential)

COLLABORATIONS

1,196 research collaborations (696 international; 500 national)  132 collaborative countries

GLOBAL BENCHMARKING

MCRI publications from 2013-2022 have been cited at twice the global average, ranking MCRI among the top three child health research institutions in the world.

RIGHT: The stem cell research team (left to right):

Dr Henry Beetham, Dr Timothy Johanssen, Thomas Martinex, Dr Alejandro Hidalgo, Dr Kevin Watt and Kathy Karavendzas. The team screened stem cell-derived heart cells in search of novel cardioprotective drugs.

Fostering an innovation culture

GETTING TO KNOW THE LIFE SCIENCE ECOSYSTEM

MCRI Brain and Mitochondrial Team Leader Dr Nicole Van Bergen aims to develop new therapies for children with rare neurodevelopmental disorders and is leveraging the Institute’s Innovation and Commercialisation ecosystem to help her achieve her goal.

“Exploring the Innovation and Commercialisation pathway has been eye-opening,” she said. “Science is not just about research and discovery – it’s about translating our research into real-world treatments for patients.

“Engaging with industry and investors helps bridge that gap, ensuring our work moves beyond the lab to benefit patients with rare disease.”

Dr Van Bergen is working to better understand genes associated with rare neurodevelopmental disorders, which could help develop new genetic therapies to improve symptoms and long-term outcomes for patients.

“Seeing our research take the next step towards potential therapies for rare-disease patients is exciting and rewarding, but it has its challenges, particularly in securing funding for

With the support of the Innovation and Commercialisation team, Dr Van Bergen is now engaging with potential investors and, in particular, Australasia’s leading life science venture capital firm, Brandon Capital. As part of this engagement, Dr Van Bergen attended the 2024 Victorian BioTech Innovators program run by Brandon BioCatalyst, the national biotech incubator arm of Brandon Capital, to focus on building her skills in research translation.

“I have always had a strong desire to contribute my knowledge and experience to improving the health outcomes of children,” Dr Van Bergen said. “By uncovering the molecular basis of rare diseases, I hope my research will improve treatments available for families suffering rare hereditary disease.”

PARTNERING FOR SCIENTIFIC BREAKTHROUGHS

DRUG DISCOVERY FACILITY AND COMPOUNDS AUSTRALIA PARTNERSHIP

Researchers at the Melbourne node of the Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW) are working to develop transformative therapies for patients with heart failure. Based at MCRI, the reNEW Heart Disease team has now completed the screening of 30,000 drug compounds, which could lead to an alternative to current treatments.

Anthracycline-based chemotherapy successfully treats 80 per cent of children with cancer. However, the burden of the disease is not always eliminated, with heart failure a common side effect. Childhood cancer survivors are 15 times more likely to develop heart failure and eight times more likely to have cardiovascular complications than the general population.

MCRI and reNEW Associate Professor David Elliott leads an interdisciplinary team focusing on discovering new drugs that can protect the heart from severe side effects.

In collaboration with the MCRI Stafford Fox Drug Discovery Facility, led by Dr Alejandro Hidalgo, the team screened reNEW’s 30,000-compound library of human stem cell-derived heart cells that had been exposed to anthracyclines.

This identified more than 1,000 compounds that can protect heart cells from anthracycline-mediated death. Next steps will be to evaluate which of these drugs are the most promising for further development.

The findings would not have been possible without partnering with Compounds Australia.

The small molecule library is managed by Compounds Australia, a compound repository supported by the Australian government as part of the National Collaborative Research Infrastructure Strategy (NCRIS).

DEMYSTIFYING DRUG DOSING IN CHILDREN AND INFANTS

When Associate Professor Amanda Gwee (above) saw children dying from potentially treatable infections in Malawi, while working as a volunteer paediatrician, she knew that she wanted to improve health outcomes for such children.

But when she started her research there was little information about how to use antibiotics in children compared to adults, and there was no co-ordinated approach to tackling the problem.

Her research aimed to fill the information gap on antibiotic dosing in young children and improve access to these life-saving drugs, and her findings have led to real-world impact.

A/Prof Gwee’s team established effective dosing for vancomycin, the most common antibiotic for bloodstream infections, and created a web-based app for accurate dosing for clinicians called Kids Calc, with help from MCRI’s Innovation and Commercialisation team.

Kids Calc generates individualised antibiotic doses for children based on their age, weight and kidney health indicators so they can receive the most appropriate drug dose for their infections.

“With a simple click of a button a health worker can personalise the vancomycin dose not only for the individual baby but for the specific infection we are trying to treat,” A/Prof Gwee said.

To help increase adoption and impact of Kids Calc, A/Prof Gwee partnered with Therapeutic Guidelines, an independent not-for-profit organisation that aims to promote the quality use of medicines.

In addition, she created and leads the Australasian Kids Dose Consortium, a network of paediatric clinician researchers across Australia and New Zealand collaborating to improve antimicrobial treatment for children.

A/Prof Gwee’s new antibiotic dosing guidelines are now being used in hospitals across Australia and overseas, and helping more children recover from infections.

ACCELERATING IMPACT

PHARMACY ALLIANCE PROGRAM

MCRI partnered with Independent Pharmacies Australia (IPA), PharmaPrograms and Praxhub to launch the first online accredited pharmacy training program in Australia focused on children’s health.

The program, designed to deliver accessible MCRI research-based advice to families and carers, currently offers training on childhood sleep, to help parents tackle sleep problems, which affect one in three children.

If successful, the program will be expanded to other key health concerns such as allergy and asthma, informed by MCRI experts.

Professor Harriet Hiscock, who developed the sleep program, said pharmacists were highly trained, trusted and accessible and were well placed to triage, treat or refer patients to other professionals as required.

“We know that many families go to their community pharmacist for trusted health advice, but pharmacists don’t always have much training in paediatric care,” she said.

“This partnership will provide more opportunities for families to access trusted health advice about their children when they need it most.”

CONCUSSION CLINIC LEADS NEW APPROACH

A pilot concussion clinic for children has opened at MCRI to kickstart early intervention and help with recovery.

MCRI’s Concussion Essentials Clinic implementation project, Australia’s first evidence-based paediatric concussion clinic, will guide early recovery and provide treatment for children and adolescents aged three to 18 years with persisting symptoms.

One in five children will experience a concussion before age 10, mainly due to falls, playground accidents or playing sport. About a quarter still experience symptoms a month after the concussion.

Watch A/Prof Gwee talk about her antibiotic dosing application.

MCRI Professor Vicki Anderson said the multi-disciplinary project would be a game-changer. “The pilot clinic will be the first in Australia to provide children with evidence-based early intervention and treatment, spanning psychoeducation, physiotherapy and psychological support and useful prevention techniques to speed recovery and a return to normal activities,” she said.

The team was recently awarded a $450,960 grant from the Victorian Medical Research Acceleration Fund.

Professor Harriet Hiscock with pharmacists.

How funding powers our work

Myriad partners and supporters help drive our research effort. Here are some examples of how that support is delivering real impact.

FROM LEFT:

DR MICHELLE TENNANT

Brain and Mind Research Fellow/Clinical Psychologist at The Royal Children’s Hospital

Dr Tennant received a Col Reynolds Fellowship from The Kids’ Cancer Project for her study that is testing if virtual reality (VR) can help improve patient experience and decrease the use of general anaesthesia in children receiving radiotherapy. “This funding is enabling me to lead the development of the RAD-VR program that will be accessible to all Victorian childhood cancer patients referred for radiation therapy at the Peter MacCallum Cancer Centre. Our program aims to alleviate child and family stress surrounding these procedures and lower sedation rates to improve patient care and outcomes,” she said.

PROFESSOR

MIRANA RAMIALISON

Transcriptomics and Bioinformatics Group

Leader/Senior Principal Research Fellow

Prof Ramialison was awarded a Heart Foundation Future Leader Fellowship for her work on understanding congenital heart disease (CHD) – the leading cause of birth defect-associated infant illness and death. She will use bioinformatic and artificial intelligence (AI) technologies pioneered by her team to identify new genetic causes of CHD. “My vision is to unravel the genomic ‘Google map’ of the heart, so we can navigate it and rapidly identify biomarkers specific to each cardiac defect,” she said. The findings could lead to personalised diagnosis, better treatment and prevention of CHD in children.

DR PETER HOUWELING

Muscle Research Team Leader/Senior Research Officer

Funding from the Gillin Boys Foundation supported the purchase of cutting-edge lab equipment to test new treatments for genetic muscle disease. The MantarrayTM, known as the genie’s lamp, was installed thanks to the Foundation and support from US company Curi Bio. “Using advanced human-specific 3D skeletal muscle models, we are putting the patient at the centre of our research, which aims to identify new disease mechanisms and therapies that offer real hope for those affected by devastating conditions such as Duchenne’s muscular dystrophy, which causes muscle wasting,” Dr Houweling said.

ERIN CRELLIN

Genomics in Society

PhD candidate

Ms Crellin was awarded a June Opie Fellowship from the University of Auckland to support her research, which aims to better understand family experiences of genomic testing and develop ways of evaluating these experiences when genetics is provided by paediatricians rather than genetic specialists. “This funding allows me to pay parents of children with genetic conditions as research advisers and partners on my project. By meaningfully involving them in the research process, I aim to make it easier for parents to participate and gain deeper insights into how health services can better support families,” she said.

ASSOCIATE PROFESSOR

BORIS NOVAKOVIC

Molecular Immunity Team Leader/Senior Research Fellow

With the support of the US-based Paul G. Allen Family Foundation, A/Prof Novakovic is investigating the immunological impact of gender-affirming hormone therapy (GAHT).

Transgender women on GAHT live shorter lives due to high rates of HIV, suicide and cardiovascular disease. However, little is known about the long-term consequences of GAHT on things such as autoimmune disease and response to infection. He plans to use the funding to establish the largest longitudinal cohort of transgender individuals receiving gender-affirming hormone therapy to better understand how GAHT influences immune function.

PROFESSOR

CATHERINE SATZKE

Translational Microbiology Group

Leader/Principal Research Fellow

Prof Satzke was awarded a fellowship from the Rebecca L. Cooper Medical Research Foundation to investigate how influenza impacts the severity of infections from Strep A. Strep A is a bacteria that can cause a sore throat and rash, but in rare cases may become invasive and result in lung infections such as pneumonia, among other serious issues. In examining the damage caused by a co-infection of Strep A and flu, Prof Satzke hopes “to uncover how co-infections could lead to serious lung diseases and offer novel treatments to patients in the future”.

DR HANNAH WALKER

Neuro-oncology Clinical Research

Fellow/Paediatric Oncologist at The Royal Children’s Hospital

Dr Walker’s project focuses on posttransplant lung disease in childhood cancer patients. She is creating immune profiles of children undergoing bone marrow transplants to better understand why lung disease develops in some children following transplantation. The results will hopefully improve diagnostics and pave the way for new therapies, which could lead to better outcomes for these high-risk patients. Her research is being supported by My Room Children’s Cancer Charity through the Peter McGrath Fellowship, along with funding from The Kids’ Cancer Project’s Col Reynolds Fellowship.

Journey around

Our research embraces the totality of children’s health, leading to breakthroughs, new treatments and special guidelines.

1

MOUTH: SPEECH AND LANGUAGE DISORDERS

Up to one in five preschool children experience language and speech disorders, such as stuttering or childhood apraxia of speech (CAS). We led research that discovered nine new genes linked to apraxia, as well as research identifying causes of apraxia and stuttering. A world-first speech genomics clinic that studies a person’s DNA to deliver diagnoses has since been established at The Royal Children’s Hospital.

2 LUNGS: ASTHMA

Asthma is a respiratory condition affecting around one in five children, and is caused by the narrowing of small airways in the lungs, which makes it harder to breathe. Our MESCA study identified risk factors that determined the persistence of childhood asthma into adult years: severe symptoms, being female and having hay fever during childhood. And we have also found links between asthma and other conditions such as allergy.

Scan here to watch videos and learn more.

3KIDNEYS: CHRONIC KIDNEY DISEASE

Chronic kidney disease (CKD) refers to a permanent reduction in kidney function. Our 2013 breakthrough, which involved growing a kidney model similar in maturity to a five-week-old embryo, enabled us to grow replacement kidney tissue. To help children with CKD, we create models of patients’ kidney disease and can correct the gene mutation in a dish. This allows researchers to better understand how the disease develops, paving the way for potential treatments.

Scan here to watch chronic kidney disease stories.

4

REPRODUCTIVE: DIFFERENCES OF SEX DEVELOPMENT (DSD)

DSD is an umbrella term for a range of conditions in which sex organs develop differently. For some children, DSD has significant health and psychosocial implications. Using genomic sequencing, our researchers improved diagnostic rates for DSD from 13 per cent to 43 per cent. We also identified variants in the genes responsible for DSD, leading us closer to completing the puzzle of how they can develop.

Read more about our recent sex development research on page 22.

5LIMBS: CEREBRAL PALSY

One in every 715 babies are born with cerebral palsy, a group of movement and posture disorders that cause physical disability. Our Orthopaedics Research group pioneered the use of botulinum toxin A to treat children with cerebral palsy, and new research has found a smartphone app can speed up detection and diagnosis of cerebral palsy by using cutting-edge artificial intelligence (AI) technology to analyse clips of babies’ movements.

Scan this QR code to learn more about cerebral palsy.

6 BLOOD: LEUKAEMIA AND BONE MARROW FAILURE

Leukaemia and bone marrow failure are blood disorders common in children. In partnership with the Novo Nordisk Foundation Center for Stem Cell Medicine we are taking blood cells generated in the laboratory and translating them into a new stem cell-based cellular therapy. Our world-first breakthrough into creating blood stem cells that closely resemble those in the human body could lead to personalised treatments for children with these disorders.

Read more on page 30 or scan this QR code to watch Riya’s story.

1 4 3 6 5 2

the body

7BRAIN: EPILEPSY

Epilepsy affects one in 150 to 200 children and can cause long-term complications from brain damage. Our study with New Zealand colleagues showed treatment with either of two drugs had a 50-60 per cent chance at stopping seizures but combining them boosted success rates to 75 per cent. We also led a study that found anti-epileptic drugs reduce bone strength in children if used for more than a year.

Watch Levi’s story here.

8 EYES: MITOCHONDRIAL DISEASE

Mitochondrial disease is a group of rare genetic disorders that affect our mitochondria, the power plants of our body’s cells. Our team has identified over 30 new genes that are responsible for severe childhood-onset mitochondrial disorders, helping couples who have lost children to the disease conceive healthy children. We led the scientific and medical campaign for legalising mitochondrial donation, a new IVF-based procedure for high-risk families.

Read Tyler’s story on page 23.

9 EARS: HEARING LOSS

About 600 Australian infants are diagnosed annually with congenital hearing loss. Cytomegalovirus (CMV) is the only potentially preventable cause of such hearing loss. Our study to determine whether saliva swabs can identify congenital CMV (cCMV) in newborns who fail routine hearing tests found the test to be feasible and well-received, possibly paving the way for it to be added to infant hearing screening programs nationwide.

Read Lachlan’s story on page 40 or learn more about cCMV research on page 43.

Watch Prof Julie Bines talk about rotavirus vaccines. 8 7 9 10 11 12

10 HEART: CHILDHOOD HEART DISEASE

Childhood heart disease (CHD) is the leading cause of death and disability in children, affecting around 3,000 babies per year. We are producing heart organoids from patient stem cells to better understand heart development and disease, test new treatments and create bioengineered heart tissues for preclinical testing. We’ve used them to find two potential drugs that may regrow damaged heart tissue, and to test for new drugs to treat COVID-19-mediated cardiac damage.

Learn more about our heart research here.

11 SKIN: SCABIES

Scabies is a contagious tropical skin condition that causes intense itching and discomfort and can be fatal. It affects more than 200 million people at any one time, with children in the Pacific region particularly at risk. Our team has contributed to discoveries, guidelines and innovations including a game-changing study showing that ivermectin, when given to whole communities, can reduce scabies by 90 per cent after one round of treatment.

Learn more about scabies from Prof Andrew Steer.

12GUT: ROTAVIRUS

The discovery of rotavirus in 1973 was a breakthrough in combating a leading cause of infant deaths worldwide. The most common cause of severe diarrhoea in children, the virus is responsible for about 215,000 deaths a year. We developed a world-first oral rotavirus vaccine for newborns to take advantage of the time when mothers and their babies are likely to be in contact with healthcare providers in developing countries.

Making

a difference

Teddy, who wieghed as much as a glass of milk when he was born at just 26 weeks, with mum Sarah. Read his story on page 36.

SUN

PICTURE: MARK STEWART, HERALD

2 Research excellence

Focused on improving the lives of children across the world, our research effort is broad and far-reaching in areas of clinical sciences, genomic medicine, infection, immunity and global health, population health and stem cell medicine.

Accelerating disease diagnosis via genomics

DEMYSTIFYING DIFFERENCES OF SEX DEVELOPMENT

About one in 100 babies are born with variations in sex characteristics, which are linked to mental health issues and physical risks such as increased cancer, heart disease, osteoporosis, intellectual disability or infertility.

Associate Professor Katie Ayers and her team are investigating these variations by growing threedimensional models of developing gonads (testes or ovaries) from stem cells in the lab, with support from the National Stem Cell Foundation of Australia and Cybec Foundation. By collaborating with families and clinicians, they aim to find underlying genetic causes and provide clearer information for clinical decisions.

Around one in 4,500 children are born with genitals that are neither typically female nor male. Failure of testes development occurs in one in 20,000 births. Genetic sequencing has begun to reveal some genes involved in these variations, but a diagnostic genetic cause is identified in only about 40 per cent of cases. Early in gestation, human embryos develop gonads that are initially undifferentiated. From five weeks, the presence of the male Y chromosome triggers testicular tissue development, while embryos without the Y chromosome develop ovaries. The foetal testis produces testosterone between nine and 12 weeks, leading to further sexual differentiation.

A/Prof Ayers and her team are creating a stem-cell derived 3D model of gonadal supporting cells to study gonad development and genetically caused disruptions.

In 2023, they identified a new rare genetic syndrome causing intellectual disability and differences in sex development which they named INDYGON (intellectual disability, neurodevelopmental defects and developmental delay with 46,XY GONadal dysgenesis).

The discovery provided answers for families who had waited over 12 years for a diagnosis and paves the way for more diagnoses and potential treatments in the future.

A/Prof Ayers said she would continue testing genetic variants affecting gonad development and hoped to improve testing and diagnoses for children with these conditions.

GENOMICS SPEEDS UP MITOCHONDRIAL DISEASE DIAGNOSIS

More than half of people with mitochondrial disease can be diagnosed via genomic sequencing, according to a national study, in a finding that will revolutionise care for families. MCRI researchers were involved in determining what boosts and impacts the testing results, especially among children.

The study found genomic sequencing of a patient’s blood could speed up and simplify the diagnostic journey, sparing those with suspected mitochondrial disease from invasive testing.

Dr Alison Compton said the findings were significant for clinical management, allowing families to make informed reproductive decisions and enabling research into new treatments.

Mitochondria are like batteries inside our cells, providing the energy our bodies need to operate. When mitochondria are faulty due to genetic variations in key genes, cells begin to die until eventually organ systems start failing.

Mitochondrial disease can be inherited through mutations in DNA that specifically affect mitochondrial function. About 50 Australian children are born every year with the disease.

The Australian Genomics Mitochondrial Disorders Flagship conducted the study in order to determine the diagnostic impact of genomic sequencing using blood samples from individuals with mitochondrial disease symptoms.

The study recruited 140 children and adults from around Australia. Participants exhibited symptoms such as muscle weakness, intellectual disability, developmental delay, seizures and hearing impairment. Published in Genetics in Medicine, the research reported a high diagnostic rate of 55 per cent, with 71 per cent of diagnoses made in genes known to cause mitochondrial disease.

Professor David Thorburn said families living with mitochondrial disease often endured prolonged diagnostic journeys and invasive testing, with many remaining undiagnosed.

“A diagnosis is crucial for patients, providing their clinical and allied health teams with insights into prognosis and allowing families to make informed reproductive decisions,” he said.

Tyler rises to the challenge

If it wasn’t for an attentive schoolteacher who noticed Tyler was displaying behavioural issues in class, he may still be awaiting a diagnosis.

“Tyler was perfectly healthy until grade two, when his teacher started noticing something wasn’t right,” his dad Leigh said. “She highlighted some issues he was having around not paying attention and following instructions. Tyler is a well-mannered child, so not listening just didn’t fit.”

Tyler underwent an assessment, which included a hearing exam. “Tyler failed the hearing tests and was later diagnosed with retinitis pigmentosa, which causes severe vision loss,” Leigh said. “Up until that point, he had learnt to hide it very well through self-taught lip reading.”

After years of testing, Tyler was diagnosed with mitochondrial disease via genomic sequencing. The genetic disease occurs when the body’s cells fail to produce enough energy to function.

Tyler, now 15, wears hearing aids and specialised glasses, having lost 50 per cent of his hearing and having a visual field of only 10 degrees. He also experiences low energy levels and muscle weakness, which can cause him to miss school.

Having experienced how frustrating not having a diagnosis could be, Leigh said the new MCRI-led research would come as a welcome relief to families.

“We were relieved once we knew what we were dealing with, so we could zone in on that condition and learn as much as we could,” he said. “Having a diagnosis means he can get the right medical care and we are able to access medical professionals who treat other children with mitochondrial disease.

“Despite his health challenges, Tyler remains cheeky. He’s always making people laugh and is super caring and thoughtful.”

Tyler was diagnosed with mitochondrial disease during primary school.

When dementia strikes early

Massimo Damiani was just 12 months old when he presented with a mysterious brain condition, broadly known as leukodystrophy, in which the wires of his brain were losing their protective insulation (myelin), causing him to lose skills.

Months of exhaustive and invasive testing provided no answers for Massimo’s parents, Stephen and Sally, and without a specific genetic diagnosis there was no hope of developing a treatment.

Leukodystrophies are a group of genetic diseases of the brain’s white matter cabling network that are associated with early-onset dementia, muscle weakness and death in children. Although individually rare, as a group these disorders affect around one in 5,000 people.

Leukodystrophies can cause problems with movement, speaking, vision, hearing and development, and they are progressive, meaning that they tend to worsen throughout the life of the patient.

A year after Massimo’s diagnosis in 2008, an Australianled research team, comprised of researchers in Melbourne, Sydney and Brisbane, pioneered what was then a new ‘trio whole genome’ sequencing approach, where both parents and their child have their whole genomes sequenced, and in a world first they established that Massimo’s condition was caused by changes in a gene called DARS, not previously associated with any disease. Massimo was the first individual in the world to have a new disease discovered through trio whole genome sequencing..

Together with international collaborators, they described the disease as hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL).

The breakthrough enabled other patients with HBSL to be identified around the world, providing answers

to patients who were previously undiagnosed or misdiagnosed. Unfortunately, there was no pathway to translate this diagnostic knowledge into a new clinical treatment.

Tragically, Massimo passed away unexpectedly in December 2017. “Massimo showed what the very best of humanity can achieve working together towards a common goal,” his dad Stephen said. “However, his mission to close the loop from gene discovery to clinical treatment was not finished.

“Massimo’s Mission brings together the very best of local and international talent to take the giant strides required to finish the mission. The mission aims to deliver rapid diagnosis and development of adaptable, repeatable and scalable disease modelling and translational capabilities using HBSL as a ‘proof-of-concept’ from disease discovery through to clinical treatment.”

With support from the Medical Research Future Fund, Massimo’s Mission, also known as the Australian Leukodystrophy Clinical and Research Program, had conducted clinical genomic testing on more than 30 patients with undiagnosed leukodystrophies and diagnosed half of them, with most patients receiving their results in less than three weeks. Since then, these diagnostic approaches have become more widely available with the diagnostic rate for leukodystrophies now approaching 80 per cent.

“By using advanced analysis methods we diagnosed four more patients, showing that these approaches can help identify the disease in more people,” Professor Rick Leventer said. “We have created Australia’s first patient registry for white matter disorders, with 300 participants enrolled to date, which has been essential for collaborating with researchers and industry.”

As the only clinic in Australia specialising in leukodystrophy, The Royal Children’s Hospital now offers new potential treatments to Australian patients through clinical trials, led by Dr Chloe Cunningham.

The Massimo’s Mission team recently discovered the first potential precision treatment for HBSL. The gene therapy is being developed in Professor Ernst Wolvetang’s lab at the University of Queensland and Dr Dominik Froehlich’s lab at the University of New South Wales. In a severely affected mouse model, the treatment showed it could address nearly all disease symptoms, including normalising body size and weight, improving motor behaviour, and significantly extending survival times.

Prof Leventer said the team was also testing other treatments on patient-derived stem cells to see if it could prevent or reverse HBSL symptoms, with preliminary results looking promising.

Massimo with his dad Stephen; his legacy is a concerted research effort for rapid diagnosis of a debilitating brain condition and, ultimately, a treatment.

Boosting growth for children with dwarfism

Apromising daily tablet has been found to be effective at increasing height and improving proportional limb growth in children with achondroplasia, the most common form of dwarfism, according to a new study. The findings could spare these children from needing a daily injection to boost growth.

The study, led by MCRI and published in The New England Journal of Medicine, found the investigational drug infigratinib was safe and effective in treating children with achondroplasia aged three to 11 years.

Professor Ravi Savarirayan said infigratinib not only boosted bone growth but also improved the quality of life for these children.

The study, sponsored by BridgeBio Pharma Inc, involved 72 children with achondroplasia from Australia, the UK, the US, Spain, France and Canada.

It reported the medication was effective at increasing the rate of growth by 2.5 centimetres a year for up to 18 months during treatment, increasing overall height and improving the upper-to-lower-body segment ratio.

Currently, the only approved therapy for children with achondroplasia in Australia is vosoritide, a daily injection, which was added to the Pharmaceutical Benefits Scheme (PBS) last year. MCRI is the largest vosoritide clinical trial site in the world.

Prof Savarirayan and his research team have previously shown how the drug improves bone growth development in patients as young as four months up until 18 years of age.

“Our new study found that infigratinib is a safe and effective drug that increases growth in children with achondroplasia and could meet a need for an oral medication for those with this condition,” he said. “This is especially important for those children who can’t tolerate daily injections and in parts of the world where oral medications are more practicable than injections.”

Achondroplasia is the most common form of skeletal dysplasia or dwarfism, affecting around one in 20,000 babies in Australia. The genetic condition can cause serious medical complications such as spinal cord compression, sleep apnoea, bowed legs, narrowing of the spinal canal and recurrent ear infections. Children with achondroplasia are 50 times more likely to die before the age of five than their peers.

Prof Savarirayan said the team had started a phase three trial and planning was underway into further studies into children up to three years of age with achondroplasia.

Reaching for new highs

Sarah, 14, was born with achondroplasia and started receiving vosorotide injections when she was seven years old.

She was the first patient in the world to join the randomised controlled phase three trial to prove that the medication is safe and effective, and her growth has improved dramatically since starting the drug.

Thanks to the boost in her bone growth, Sarah can easily go on walks, reach things on shelves and, as she can now reach the pedals in a car, will be able to drive a regular vehicle when she’s older.

Prof Savarirayan said it was unheard of that someone with dwarfism would be able to drive with no modifications such as extension pedals or cushions.

Sarah said it would have been difficult to achieve as much as she had without being on vosorotide. “I would probably be really self-conscious about my height,” she said. “I’d be a lot shorter and the bone structure would be a lot different than it is now.”

People with achondroplasia have bowed legs and curved spines, which require painful surgical procedures to correct. But after being on vosoritide for seven years, Sarah’s legs and spine are straight enough that she won’t require such invasive surgery.

Prof Savarirayan said children with achondroplasia grew for a longer time than other children, with girls growing up to the age of about 20, and boys growing until 19, and Vosorotide would work as long as the growth plates were open.

With a potential six more years on vosorotide, Sarah is expected to reach a height of about 152 centimetres (five feet), which could further improve her health and wellbeing, and put even more possibilities within reach.

Scan here to watch the Dwarf Story documentary trailer.

Sarah pictured in the documentary Dwarf Story by Ric Servini, and inset at age 7 when she first started receiving treatment. PICTURE: MITCH BEAR, GEELONG ADVERTISER

Mackenzie’s Mission builds momentum

In July 2024, the Casellas and their two sons, Izaac and Joshua, reunited with the three Mackenzie’s Mission research leads, MCRI Prof Martin Delatycki, NSW Health Pathology

Prof Edwin Kirk and University of Western Australia

Emeritus Prof Nigel Laing.

In just 10 years, genetic carrier screening for couples planning to have children has moved from a littleknown test to wider recognition of its value in identifying carriers of recessive genetic diseases.

The ground-breaking Mackenzie’s Mission study played an important role in that momentum, building evidence to support the introduction of national population-level genetic carrier screening in Australia.

Mackenzie’s Mission, funded by the federal government’s Genomics Health Futures Mission under the Medical Research Future Fund, was named after Rachael and Jonathan Casella’s baby, Mackenzie, who was born with spinal muscular atrophy and died seven months later.

Until recently, people with an increased chance of having children with a severe recessive genetic condition would generally only learn of their carrier status after the birth of an affected child, as happened with Mackenzie. Reproductive genetic carrier screening

gives couples the choice to have that information before conceiving or during pregnancy.

The study, administered by Australian Genomics, tested 9,107 couples for about 750 severe childhood-onset recessive conditions. One in 50 couples was found to have an increased chance of having children with one or more of the conditions.

It was the first time a genetic carrier screening project of such scale had been attempted in Australia, and one of the first in the world. It involved more than 1,000 healthcare professionals, researchers, diagnostic laboratory staff and others across all states and territories.

The project culminated in a publication in the prestigious New England Journal of Medicine. Its findings showed that couples welcome genetic carrier screening and most of those who find they have an increased chance of having children with a serious condition take steps to avoid this.

GLOBAL ALLIANCE FOR GENOMICS AND HEALTH

The international genomics community descended on Melbourne in 2024 for the Global Alliance for Genomics and Health (GA4GH) 12th Plenary.

The first GA4GH annual meeting held in Australia was an opportunity to showcase some of the advances in human genetics in this country and to learn about developments overseas.

Almost 300 people from 44 countries attended in person, with a further 400 viewing online. Some of the world’s leading experts in genomic technologies, genomic clinical implementation, Indigenous genomics and global standards for data use were there to give keynotes and participate in panel discussions and workshops over five days.

Australian Genomics, led by MCRI Director Professor Kathryn North AC, co-hosted the event. Prof North is Vice-Chair of the GA4GH and lead of its National Initiatives Forum which met on the final day.

Formed in 2013, the GA4GH unites an international community dedicated to advancing human health through genomic data. It builds technical standards and policy

frameworks and tools for the responsible, voluntary and secure use of genomic and other related health data.

The Alliance embraces more than 500 member organisations in healthcare, patient advocacy, research, ethics, government, life science and information technology.

Attendees at the Global Alliance for Genomics and Health (GA4GH) gathering in Melbourne.

VCGS: Becoming the standard of care

Genomics is the study of us, of the DNA and genes that make us who we are.

Errors, or variants, in our DNA can cause a range of diseases generally referred to as genetic conditions, which can be complex. There are thousands of disease-causing genes and millions of possible disease-causing variants in those genes. Finding answers is difficult. This is why genomic-based testing is so powerful.

Historically, patients had to undergo many sequential tests to identify the cause of their condition, one gene at a time. This process was time-consuming and arduous for patients, often having to provide sample after sample without answers, over many years.

Genomic testing changed that, with only one sample needed to analyse an entire human genome. This information enables not just disease diagnosis, but can also predict future disease, provide an opportunity for prevention and, in some cases, personalised treatment.

VCGS BY THE NUMBERS:

130,310 tests performed (not including NBS)

75, 689 babies screened (NBS)

250,000+ NIPT tests to date

130 publications authored by 65 staff members

26 genetic counsellors

12 clinical geneticists

8,100+ clinical consults

107 medical scientists

GENOMICS IN AUSTRALIA

Victorian Clinical Genetics Services (VCGS) has seen a steady rise in demand for genomic testing and in 2024 it delivered more than 200,000 genetic and genomic tests.

Genomics allows clinicians to personalise care for patients, catering to their unique needs. It also enables the detection of conditions earlier than traditional genetic methods, giving patients the time and agency to make the decisions that are right for them.

Because of these benefits, the federal government recently invested $30 million into a national body, Genomics Australia. This agency will lead and coordinate the implementation of genomic research into the healthcare system, making it the standard of care.

GENOMICS AT VCGS

For 37 years, VCGS has been at the forefront of providing genetic and genomic testing in Australia. In large parts, this success is due to the organisation’s strong academic ties and history of innovation.

VCGS is unique among pathology providers given many of its staff are involved in the latest genomic research and it’s a key organisational priority to translate research findings into clinical practice. In 2024, 65 staff were named as authors in more than 130 publications.

An exciting project from this past year was the development of Curio – a unique genomic variant interpretation tool. While other genomic data interpretation programs exist in the market, none could meet VCGS’s specific needs for variant interpretation.

The group’s Clinical Genomics team, Software Support and Integration team, and Clinical Bioinformatics Unit worked together with industry partners to create and implement a new genomic analysis platform which included Curio.

VCGS OFFERS A UNIQUE, MULTIDISCIPLINARY SERVICE

While research and development are key drivers behind genomic science, it takes a lot more to deliver on the clinical promise of genomics.

Effective genomic healthcare requires not just test results, but clinical expertise to ensure patients feel supported and empowered in their decision making.

Compared to standard genomic testing services, VCGS has an integrated, multidisciplinary approach to genomic testing, with laboratory, research and clinical teams all working together to deliver the best outcome for the patient.

The clinical team of 54 people has provided more than 8,100 clinical consults over the past year. This support is available to all patients to help them through what is often a complicated, and emotionally taxing time in their lives.

INTRODUCING A NEW CLINICAL EXECUTIVE MANAGER

Overseeing the VCGS clinical team is Associate Professor Melody Menezes, who joined the organisation in early 2024 as Executive General Manager – Clinical.

A/Prof Menezes is a genetic counsellor with more than 15 years’ experience in reproductive screening and foetal medicine. She will play a pivotal role in supporting the VCGS clinical team and sharing her wealth of knowledge and expertise with both staff and patients.

A/Prof Menezes (pictured above) is also crucial to efforts to train the future genomics workforce. In addition to her clinical work, she’s also Associate Program Director for the Master of Genetic Counselling program at the University of Melbourne.

TRAINING THE NEXT GENERATION

A/Prof Menezes’ association with the University of Melbourne is key given VCGS’ commitment to developing the future of the genomics workforce in Australia. Currently, the organisation has staff who design curriculums, teach students and manage clinical placements, among other training requirements.

In addition to supporting master’s-level training in genetic counselling and medical science, VCGS also supports advanced training through The Royal College of Pathologists of Australasia (RCPA).

THE PROMISE OF GENOMICS

Genomic medicine is complex, labour-intensive and constantly changing. But when delivered by scientific and clinical experts, it can be life changing for patients and their families.

VCGS is already at the cutting edge of delivering these services to Australian and New Zealand families, but there is more work to be done.

The coming year will see more research, new patients, fresh students and new clinical services with VCGS’ ongoing aim being to give every patient, now and into the future, the best possible outcome.

RESEARCH EXCELLENCE

Riya’s rare blood disorder journey

Aplastic anaemia sufferer Riya and her parents Gaurav and Sonali: her successful stem cell transplant has raised the prospect of future targeted treatments for leukaemia and bone marrow disorders.

PICTURE: ARSINEH HOUSPIAN, THE AUSTRALIAN

Riya went from never having a blood test to needing a blood transfusion every other day.

The then 11-year-old was diagnosed with aplastic anaemia, a rare and serious blood disorder in which the body stops producing enough new blood cells.

Aplastic anaemia develops because of bone marrow damage. Without adequate numbers of blood cells, people with the condition can become anaemic and more susceptible to infections, bleeding and bruising.

Riya’s family, including parents Sonali and Gaurav Mahajan, were in India when she started to feel fatigued, rapidly lost weight and developed bruises on her thighs.

“We took Riya for a simple blood test, her very first one,” Sonali said. “But as soon as the results came in, we were told to rush her to the emergency department due to her being so low on platelets and red blood cells.”

Riya was originally diagnosed with leukaemia because the symptoms were very similar to aplastic anaemia, so when her parents got the eventual diagnosis, it was a shock.

“The doctors told us she had bone marrow failure, and she would need regular platelet and blood transfusions to get her blood cell count up,” Sonali said.

She said the family had already planned to return to Australia for Riya’s high school education, but the diagnosis fast-tracked their plans.

“As soon as we got off the plane we went straight to The Royal Children’s Hospital,” Sonali said. “Within days, Riya started therapy, but she never really responded to the medications.

“Eventually, a bone marrow transplant was recommended due to the number of transfusions she needed and the concerns around possible long-term complications.”

Over six months, the family struggled to find a perfectly matched donor and were losing hope. It caused them great anxiety and it was traumatic to see Riya struggle. Eventually, the specialist decided Sonali would be the donor, despite being only half-matched.

Following her bone marrow transplant in June 2023, Riya remained in hospital for three months due to minor complications.

Without a perfect donor match, Riya’s platelet count took more time to return to normal; she required longer immunosuppressive therapy and was more susceptible to infections. She has only recently started to be re-vaccinated.

“She had a weakened immune system for a long time after the transplant but thankfully, once she was discharged from the hospital, she didn’t need another transplant,” Sonali said.

Riya, now 14, said that after a painful few years she was now feeling well, was taking hydrotherapy classes and was glad to be back at school with her friends.

Sonali said the new MCRI-led lab procedure that created blood stem cells closely resembling those in the human body was a significant achievement.

“This research will come as a blessing to so many families,” she said. “The fact that one day there could be targeted treatments for children with leukaemia and bone marrow failure disorders is life changing.”

Riya’s father Gaurav added, “We are truly grateful for the care and treatment provided by The Royal Children’s Hospital and the research undertaken by MCRI.

“We could not have asked for better care for our daughter and feel that the new research being done by MCRI will be a great boon for children suffering from similar conditions as Riya in the future.”

Spotlight on the new Cancer Therapies group

Today, most children will survive their cancer diagnosis, yet many are left with life-long health complications because of cancer treatment.

The new MCRI Cancer Therapies group wants to change this.

The group is led by Associate Professor Rachel Conyers, a paediatric oncologist and clinician scientist who specialises in childhood leukaemia, lymphoma and bone marrow transplantation, and who also leads cancer pharmacogenomics and digital wearables projects.

The team aims to predict which children will experience complications from cancer treatment and protect them from those complications and side effects.

“Our team bridges research at MCRI and the important clinical work being done at The Royal Children’s Hospital,” A/Prof Conyers said. “Our hope is that our work helps to treat our most vulnerable patient groups.”

The Cancer Therapies group is comprised of an interdisciplinary team of clinicians, pharmacists and scientists who aim to increase understanding of how and why children react positively and negatively to cancer treatment.

One way they do this is through an area of research called pharmacogenetics, which looks at the genetic variations that significantly influence how a child’s body metabolises and responds to medications.

Another way the group is working to better understand how children react to cancer treatments is through innovative trials in partnership with technology companies like Apple.

BLOOD STEM CELL BREAKTHROUGH

Leukaemia and bone marrow failure are severe blood disorders in children that affect their normal blood cells and can cause intense fatigue, increased infections and easy bruising or bleeding. They require urgent medical care. In Australia, about 280 children are diagnosed with leukaemia each year, making it the most common childhood cancer.

Currently, a blood stem cell transplant from a donor is often a key part of lifesaving treatment for childhood blood disorders. However, not all children find an ideally matched donor. Mismatched donor immune cells from the transplant can attack the recipient’s own tissues, leading to severe illness or death.

Excitingly, researchers at MCRI have made a world-first breakthrough by creating blood stem cells in the lab that closely resemble those in the human body. This discovery, published in Nature Biotechnology, could soon lead to personalised treatments for children with leukaemia and bone marrow failure disorders.

“The ability to take any cell from a patient, reprogram it into a stem cell and then turn these into specifically matched blood cells for transplantation will have a massive impact on these vulnerable patients’ lives,” said the lead author, Associate Professor Elizabeth Ng.

The research has developed a workflow that produces transplantable blood stem cells in the lab that closely resemble those found in the human embryo. Importantly, these human cells can be created at the scale and purity required for clinical use.

Human clinical trials could begin within five years.

Paediatric oncologist

A/Prof Rachel Conyers leads MCRI’s new Cancer Therapies group.

Getting hands-on with stem cell research

Researchers from MCRI’s Stem Cell Medicine group participated in UniStem Day, a global event that provides high school students an opportunity to learn, discover and discuss the power and potential of stem cell research.

Our 2024 UniStem Day, supported by the Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW) was focused on how stem cells are used to understand development and diseases of the blood and immune systems, such as leukaemia and bone marrow failure.

Through a long-standing partnership with the Gene Technology Access Centre in Parkville, 160 high school students from across Victoria journeyed to Melbourne to meet with researchers and learn about how stem cells are used to understand development and diseases of the blood and immune systems. They were also introduced to the many different careers that are available in science.

Guided by researchers in the Blood and Immune Development groups and the Stem Cell Ethics and Policy group, the high school students performed gel electrophoresis, counted cells under a microscope and carried out blood-type matching. The students also tried their hand at science communication through art and considered the questions people should be asked before donating cells to medical research.

GLOBAL EFFORT TO TREAT CHILDHOOD HEART DISEASE

A global collaboration between MCRI and Gladstone Institutes in the US is set to accelerate treatment for childhood heart disease.

Globally, one in 100 children are born with heart disease. Childhood heart disease encompasses a

spectrum of structural defects present from birth, as well as diseases of the heart muscle that can be caused by both genetic and environmental factors. Severe forms of childhood heart disease can lead to heart failure, a critical state where the heart cannot supply sufficient blood to the body.

Current therapies for heart failure in children do not address the underlying causes and only provide symptomatic relief. The only option for patients in end-stage heart failure is heart transplantation. Unfortunately, a heart transplant has major limitations, including low donor tissue availability, poor medium- to long-term survival rates and the necessity for lifelong immunosuppression, leading to a poor quality of life for patients.

This new international partnership between two of the world’s leading research institutes utilises pioneering technology across computational biology and stem cell medicine to understand and treat the underlying causes of childhood heart disease.

Professor Enzo Porrello and his team in the MCRI Heart Regeneration group grow three-dimensional models of heart tissue in the lab and use these to understand heart disease.

“These types of studies generate enormous data sets,” Prof Porrello said. “We need to be able to mine those data sets to pinpoint the underlying cause of the heart disease – this is where Gladstone Institutes’ expertise in artificial intelligence comes in. It allows us to predict how an individual patient might respond to a particular therapy.”

This pioneering international initiative holds the promise of transforming the treatment landscape for childhood heart disease and providing better outcomes for children worldwide.

Students with MCRI researchers during UniStem Day.

New therapies offer hope

When Amelia was two years old, her world changed as she went into heart failure and was subsequently diagnosed with cardiomyopathy, a heart muscle disease that affects the pumping power of the heart. Given the severity of her heart failure, the only option for Amelia was heart transplantation.

Several months after her diagnosis, Amelia was listed on the heart transplant waiting list. Her mother Ebony recalls thinking, ‘When will she get a new heart? Where will it come from? How long will it be?’ Luckily, a donor heart became available for Amelia, and she underwent transplantation that year.

Soon after Amelia’s heart transplant, Ebony discovered that her son, Elijah, also had

cardiomyopathy. Although Elijah is being closely monitored by the cardiology team, the family faces the uncertainty of not knowing whether he might one day suffer heart failure.

Children like Amelia and Elijah face a lifelong health journey, as heart transplantation unfortunately does not offer a cure for such patients. For this reason, Ebony finds comfort in knowing that new therapies are in the pipeline to give patients more options in the future.

“It’s good to know that there are people working on things that will help the lives of my kids and other kids around the country,” she said.

Amelia, 11, and Elijah, 6, were both diagnosed with congenital heart disease.

A severe concussion suffered by netballer Mackenzie at 16 led her to miss weeks of school.

Blood clue for managing concussion

Melbourne researchers have discovered a blood protein that could help detect which children will experience ongoing concussion symptoms more than two weeks after an injury.

Led by MCRI and published in the Journal of Neurotrauma, the study found that the protein alpha1-antichymotrypsin (alpha-1-ACT) could serve as a potential biomarker for delayed concussion recovery in children.

Blood samples were collected from children aged five to 18 who presented to the emergency department at The Royal Children’s Hospital (RCH) within 48 hours of sustaining a concussion.

The research revealed that levels of alpha-1-ACT were significantly lower in children who experienced delayed recovery. MCRI researcher Ella Swaney highlighted the growing public health concern over concussions and the need for a tool to identify those at risk of delayed recovery.

With 25-30 per cent of the four million children who suffer concussions annually experiencing long-term symptoms, and about half never seeking medical care, early detection is crucial.

methods and improving return-to-school and return-tosport protocols.

Additionally, the Concussion Essentials (HeadCheck) app, developed by MCRI in collaboration with RCH and the Australian Football League, helps recognise and manage concussion early.

Adolescents like Mackenzie, who experienced a concussion at 16, could benefit from the findings.

During a netball match, she was knocked unconscious when she hit her head on the court. Out cold for a minute and suffering a bleeding nose and a swollen eye, Mackenzie was taken to RCH where she was diagnosed with a concussion.

Symptoms such as headaches, memory difficulties and sensitivity to light can persist for months, while mental health conditions may last for years.

“Delayed recovery from concussion spans emotional, behavioural, physical and cognitive symptoms, which can affect the wellbeing of the child, delaying their return to school and sport,” Swaney said.

“Identifying children at risk of delayed concussion symptoms early is crucial to ensure effective treatment and targeted follow-up.”

Professor Vicki Anderson said the small study, involving 80 children, was the first human study to identify alpha-1-ACT as a potential marker for delayed concussion recovery.

“We now need to confirm this in larger studies, but our discovery could contribute to acute clinical management by providing clinicians with an acute marker to guide more timely and targeted treatments to children most likely to experience long-term problems,” she said.

The study is part of a broader effort to improve concussion management. International research, with major contributions from MCRI researchers, aimed to change how concussions are viewed across sports and medical settings by updating exercise and rehabilitation

In the weeks that followed, Mackenzie was nauseous, dizzy and confused, sensitive to bright lights, had memory loss, headaches and muscle soreness, and experienced poor mental health. She also missed weeks of school due to the ongoing concussion symptoms.

To help her recover, Mackenzie was enrolled in MCRI’s Concussion Essentials Plus program for children with chronic persisting concussion symptoms. It involved weekly physiotherapy and psychology treatments spanning months, and education around return to exercise, school and sports.

“It was a slow process, but the intervention helped me recover to my normal self,” she said. “All I wanted was to be back on the netball court. I didn’t understand how much of a long-term impact concussion can have.”

Mackenzie returned to netball five months after her injury. However, she is more cautious on the court now.

Mackenzie’s mum, Karen, said her daughter wouldn’t have made as much progress in her recovery without the help of the concussion program. “It was comforting to have Mackenzie in the program, being assessed and monitored regularly. She wouldn’t be at the stage she is today without that assistance.”

Karen said new research led by MCRI that found a blood protein could help detect which children would experience ongoing concussion symptoms would come as a welcome to relief to families.

“If clinicians can easily find out which children will have long-term concussion symptoms, then they can receive targeted and early intervention,” she said.

“Recovery from concussion can be a long process, like our daughter’s, and anything that can help speed up the process would make a world of difference.”

Scan here to download the Concussion Essentials app.

Guiding the way for preterm babies

MCRI researchers have introduced groundbreaking clinical practice guidelines to improve the long-term health outcomes of children born very preterm. The guidelines, led by MCRI’s Centre of Research Excellence in Newborn Medicine, focus on the follow-up care of babies born before 32 weeks’ gestation, from the time they leave the hospital up until six years of age.

Developed in collaboration with clinicians, maternal and child health nurses, and those with lived experiences of preterm birth, the guidelines aim to standardise and enhance post-discharge care for very preterm infants who face increased risks of growth, health and developmental problems.

Professor Jeanie Cheong highlighted the importance of the guidelines, noting that about 3,500 babies were born very preterm in Australia each year.

“Children born very preterm require intensive medical care to survive,” she said. “And while treatments and survival rates for these children have significantly improved, they still face potential health setbacks due to their early birth.”

Up to 50 per cent of these children will experience difficulties, including delayed growth, elevated blood pressure, hearing loss, neurodevelopmental and sleep problems, language delay and autism.

Prof Cheong said follow-up services for children born very preterm varied considerably across Australia, leading to many children missing out on important assessments and timely referrals.

The new guidelines aim to address these gaps by ensuring collaboration between GP clinics, hospitals and other healthcare centres.

Dr Jamie Owen emphasised the importance of a coordinated approach, initiated by each hospital’s NICU team, to maximise efficiency, reduce duplication and lessen the burden on families.

Approved by the National Health and Medical Research Council (NHMRC), the guidelines will be reviewed in five years and updated with any additional evidence-based recommendations.

With ongoing research and support, the future looks brighter for these vulnerable children.

Teddy defies the odds

Born at 26 weeks’ gestation, Teddy weighed just 719 grams and could almost fit in his mother Sarah’s hand.

Teddy’s extremely premature birth was needed when his heart rate began to slow in utero, with doctors recommending an emergency caesarean.

Teddy spent nearly 100 days in the Neonatal Intensive Care Unit (NICU) and required breathing support and a feeding tube to sustain his growth.

Sarah said having an extremely preterm baby was an overwhelming experience, but she felt immense relief and gratitude when she and her husband Corey could finally bring Teddy home.

Babies born at 26 weeks have an 80 per cent chance of survival and one in 10 may have severe disabilities. But despite such daunting statistics, Teddy continued to defy the odds.

At 14 months old, Teddy is cheeky and inquisitive, having reached all the necessary developmental milestones and only requiring physiotherapy support.

Sarah said the new national guidelines to improve the long-term health outcomes of children born very preterm was reassuring.

“Being a mum of a preterm baby is very overwhelming, so having structure and access to the right supports once you leave hospital is invaluable,” she said. “This will come as a huge comfort to families, knowing their babies will have the best follow-up care.”

Gender-affirming healthcare

An MCRI-led project that aims to improve trans and gender-diverse healthcare for children and adolescents was awarded $5 million in federal funding via the Medical Research Future Fund.

Associate Professor Ken Pang and his team are bringing together over 60 researchers, clinicians and community members to create a national data registry, improve the delivery of hormonal treatments (puberty blockers, oestrogen and testosterone), explore the usefulness of gender-affirming group programs, and compare different gender-affirming healthcare models for young trans people across Australia.

This will leverage support from the Australian Research Consortium for Transgender Youth and Children (ARCTYC), which was launched in 2022 to conduct robust, communitydriven research that strengthens the delivery of gender-affirming care and improves the health and wellbeing of trans young people.

and wellbeing outcomes for the trans community, it will also help to decrease the stigma and the constant barrage of misinformation used against trans folks and their families,” she said. “Facts and evidence are what we need, not fear and ignorance.”

A/Prof Pang said the project would draw on key data from the Trans20 study, a Melbourne Children’s Research Campus initiative that includes MCRI, The Royal Children’s Hospital and the University of Melbourne.

A key function of ARCTYC is the involvement of the trans community in the design and delivery of research. As part of this project, ARCTYC investigators and contributors will include young people, parents, researchers and clinicians who themselves have lived experience of gender diversity.

A/Prof Pang said a theme at the core of the study was intersectional disadvantage.

“A variety of voices will be included in this research, including young trans people who are neurodivergent, are from rural and regional backgrounds, who identify as First Nations, or face other types of marginalisation,” he said.

“This is a comprehensive trans youth health project that will involve major paediatric healthcare providers, trans health research leaders, trans young people, their parents and trans community groups across Australia.”

Dylan, a member of ARCTYC’s Youth Advisory Committee, said access to gender-affirming healthcare transformed their life. “I went from feeling anxious and disconnected leaving my house to studying, working and thriving in my community,” they said.

“I feel so privileged to have this opportunity to support evidence-based research, telling the stories of young trans and gender diverse people across Australia.”

Lisa, a parent of a trans young person, said research projects such as those being undertaken by A/Prof Pang were overdue.

“The collection of data and presentation of facts [in this study] will not only improve the medical care, health

“A critical part of this work will be pooling national data on the health and wellbeing of transgender young people who have attended paediatric gender services since 2017, with Victoria and Trans20 to provide the largest dataset,” he said.

A/Prof Pang said the study would also provide pivotal evidence for best-practice healthcare guidelines, policies and practices in clinical, community and government sectors.

“By understanding the best way to deliver gender-affirming interventions and by establishing the pros and cons of different gender-affirming healthcare models, we will develop a stronger evidence base, and ultimately improve the mental and physical health of trans young people around the world,” he said.

Dylan, a member of ARCTYC’s Youth Advisory Committee, said access to genderaffirming healthcare had transformed their life.

Reviewing trans care guidelines

MCRI and The Royal Children’s Hospital are proud to lead Australia’s largest clinical and research program providing care for trans children and young people, and their families.

Australia’s National Health and Medical Research Council (NHMRC) will undertake a comprehensive review of the Australian Standards of Care and Treatment Guidelines for Trans and Gender Diverse Children and Adolescents in Australia (first published by our Campus in 2018) and develop new national guidelines.

Development of these guidelines is expected to be complete by 2028 and will be conducted with leading researchers and clinicians in paediatric trans care, and those with lived experience. MCRI always has and will continue to support an evidence-based approach that puts our young people’s health and wellbeing first. We also support the federal government’s commitment to the ongoing provision of this essential healthcare.

All children and young people deserve respect, support and the freedom to express themselves. We reaffirm the rights of trans and gender-diverse children and young people to receive the care and support they need to thrive.

Addressing anxiety and depression in adolescents

Young people’s mental health problems are often long-lasting, with 64 per cent reporting symptoms three or more times during their adolescent years, according to MCRI-led research published in The Lancet Psychiatry.

Dr Ellie Robson said the rate and recurrence of depression and anxiety symptoms were concerning, given mental health problems during adolescence had serious consequences for later life.

“These are striking findings, particularly given how many young people experienced symptoms over multiple years of the study and how much depression and anxiety symptoms can affect young people’s functioning and can have long-lasting negative health outcomes,” she said.

The Child to Adult Transition Study (CATS) tracked the symptoms of anxiety and depression in 1,239 Melbourne children every year from the age of 10 to 18. It found that girls were at increased risk, with 84 per cent having depression or anxiety symptoms at least once during adolescence compared to 61 per cent of boys. Girls were also more likely to have ongoing symptoms – 72 per cent versus 49 per cent for boys.

The increased onset of anxiety and depression symptoms coincided with educational stress such as the primary-to-secondary-school transition, exam periods and the end of compulsory education. Three-quarters of participants who struggled with mental health problems during the height of COVID-19 already had symptoms, highlighting the existence of factors beyond the pandemic stressors.

Professor Susan Sawyer, Director of the Centre of Adolescent Health at MCRI and The Royal Children’s Hospital, said despite growing concerns about adolescent mental health, few studies before CATS had comprehensively charted the course of common mental disorders across this key life stage.

“Beyond clinical care, we urgently need to fund, develop and evaluate preventive strategies that aim to reduce the onset and chronicity of depression and anxiety,” she said.

MENTAL HEALTH IN PRIMARY SCHOOLS

A unique program for schools to improve mental health has achieved top marks in a new study led by MCRI.

The research found that the Decode Mental Health and Wellbeing Program increased mental health literacy and reduced stigma among students, with more than half of teachers reporting that they saw significant improvements in student wellbeing.

Developed by Matterworks, in partnership with Education Perfect and informed by MCRI researchers,

Decode uses evidence-backed health information translated into digestible video formats. The videos feature TV, TikTok and sporting stars presenting relatable stories and actionable solutions.

The pilot’s evaluation, conducted in five primary and secondary schools in Victoria, found that 67 per cent of students and 86 per cent of teachers reported positive engagement with the program.

Decode increased mental health literacy by 7 per cent among students and reduced stigma around mental health by 19 per cent, fostering more open and supportive attitudes and conversations. Additionally, over half of teachers reported an increase in student wellbeing.

In Australia, one in seven children aged four to 17 experiences a mental health diagnosis annually, with half of all conditions starting before age 18.

Professor Harriet Hiscock said that prevention and early intervention in schools were crucial for change in the long term.

HEALTHIER WEALTHIER FAMILIES

Strengthening families’ financial wellbeing is critical to creating environments where children can thrive.

However, every day, one in three Australian families who are raising children cannot afford food, rent or other basic needs that are essential for good health. This impacts caregivers’ mental health, the child-caregiver relationship, and the home learning environment – which are all key factors for children’s early development.

Healthier Wealthier Families is an initiative of MCRI’s Centre for Community Child Health. Adapted from a successful Scottish model, it aims to improve the health and wellbeing of families with young children by reducing financial hardship.

Dr Anna Price and her team work with communitybased health services to support families experiencing financial hardship by connecting them with financial wellbeing services in their community.

They have shown that the model is feasible, acceptable and beneficial in a pilot study, increasing families’ income by an average of $6,504. It also offered additional benefits such as reduced financial stress, practical solutions, increased financial knowledge and improved wellbeing and empowerment. Next steps are to deliver the benefits to more communities and understand the cost benefits of the model in Australia.

“Raising a family costs money, and the cost of living is making it hard for a lot of parents,” Dr Price said. “By identifying challenges early, Healthier Wealthier Families works to help families increase their income, reduce their financial stress and improve their wellbeing.”

Hunter, with mum Kirsten, has joined the nationwide immunotherapy program.

BNutting out childhood food allergies

abies with peanut allergies in Australia will be offered a world-first treatment program to transform allergy care.

Ten paediatric hospitals across five states have partnered with the National Allergy Centre of Excellence (NACE), hosted at MCRI, to introduce a nationwide peanut oral immunotherapy (OIT) program into mainstream care.

The ADAPT OIT Program aims to change peanut allergy treatment in Australian school-aged children from strict avoidance to safely building tolerance and potentially achieving remission.

The free program is available to children under 12 months who have been diagnosed with peanut allergy and are receiving care at participating hospitals. Eligible children will follow a daily dosing schedule of peanut powder at home for two years.

NACE Director Professor Kirsten Perrett said this would be the first standardised peanut allergy treatment program offered in Australian hospitals outside of a clinical trial setting.

The program will use a food allergy test at the end of the treatment to determine whether remission has been achieved.

Children will be followed in routine clinical care for at least 12 months to evaluate the program’s effectiveness and long-term outcomes.

Announcing the program at MCRI, then-Assistant Health Minister Ged Kearney emphasised the importance of this new model of care in combating life-threatening peanut allergies in babies, which could alleviate fear of accidental exposure to peanuts.

The Chatwins, who joined the program at The Royal Children’s Hospital, first noticed their son, Hunter, showing signs of being allergic to peanuts when he ate peanut butter and developed hives at the age of six months.

“We are taking part in the program to try and improve his chance of being able to safely eat peanuts in the future,” Hunter’s mother Kirsten said.

“Many families are desperate to protect their children from allergic reactions and anaphylaxis. Some are travelling interstate or even overseas for OIT treatment at private clinics, so to have this program available and free at public hospitals is a game-changer.”

Eligible babies will be referred to the program by their allergist from hospitals in Victoria, Western Australia, Queensland, South Australia and New South Wales.

The program aims to expand to more hospitals and private allergy clinics, including in regional and remote areas, if successful.

AIR POLLUTION AND CHILDHOOD ALLERGIES

Exposure to higher levels of air pollution as a baby is linked to having a peanut allergy throughout childhood, according to a study conducted by MCRI and the University of Melbourne.

The study found that infants exposed to higher levels of air pollution were more likely to develop peanut allergy over the first 10 years of life. However, this association was not evident for egg allergy or eczema.

Published in the Journal of Allergy and Clinical Immunology, the study was the first to explore the link between air pollution and challenge-proven food allergy over the first decade of life. The research involved 5,276 children in Melbourne drawn from the MCRI HealthNuts study, with air pollution exposure estimated at their residential addresses.

Associate Professor Rachel Peters, a recipient of the Suzi Carp Scholarship, said that higher air pollution levels were a risk factor for developing and persisting with peanut allergies, despite Melbourne’s relatively good air quality compared with international standards. The rise in allergy prevalence coincides with increased urbanisation, suggesting environmental factors play a role in high allergy rates.

Eczema and food allergy often develop in infancy and can naturally resolve over time but may persist for some individuals. This study used the gold-standard oral food challenge to investigate the relationship between food allergy and air pollution.

Researchers found that co-exposure to peanut allergens and air pollutants may increase allergy risk due to the irritant and inflammatory effects of pollutants on the immune system. However, further research is needed to understand this and why eczema and egg allergy are not similarly affected.

Allergic disease is a significant public health challenge in Australia, with one in 10 children developing a food allergy in their first year of life.

A/Prof Peters said policies aimed at reducing air pollution exposure could potentially reduce the development and persistence of peanut allergy, as well as improving city design, air quality regulation, and promoting public transport and non-combustion fuels.

Mae, 8 (pictured on page 48), was diagnosed with peanut, diary and egg allergies at eight months old after an allergic reaction saw hives break out across her entire body. She has since had several anaphylaxis reactions, and carries an Epipen with her at all times.

Living in Melbourne’s west, Mae’s mum Eleanor said the findings showed why it was important that we tackle air pollution.

“There is a whole suite of reasons why we should be addressing air pollution and its link with peanut allergy just adds to that,” she said. “Multiple factors are behind the allergy epidemic and if higher levels of air pollution are impacting the prevalence and persistence then that’s an important discovery for families.

“We want to see the quality of life improve for children living with allergies as well as fewer children having to go through what Mae has experienced. The more we know about how to prevent allergies the better.”

The Suzi Carp Scholarship recognises the longtime contribution to MCRI of former chairman and ambassador Suzi Carp and is awarded to the most promising students and early-career researchers at the institute.

IMPROVING THE HEALTH AND WELL-BEING OF DEAF AND HARD-OF-HEARING CHILDREN

The health and wellbeing of children in Australia who are deaf and hard of hearing will improve under the first national system to track their care.

Despite early identification of hearing loss and availability of high quality hearing services, many children who are deaf and hard of hearing still face many challenges in their health and wellbeing.

Current hearing services collect information in silos, and there is an opportunity to link screening, diagnostics management and outcomes measurement through a national data system. The Australian National Child Hearing Health Outcomes Registry (ANCHOR) aims to address this.

ANCHOR will create a single system to provide better support, particularly for culturally and linguistically diverse (CALD) and Aboriginal and Torres Strait Islander communities, where hearing loss caused by early middle-ear infections can be prevented.

ANCHOR, which is led by MCRI and involves more than 50 organisations across Australia, will be rolled out in Victoria and Queensland over three years.

Associate Professor Valerie Sung said the registry would track interventions and outcomes, ultimately providing standardised, equitable care for all children who are deaf and hard of hearing in Australia.

More than 12,000 children in Australia have significant hearing loss, with one child identified daily. Language and speech development in deaf or hard of hearing children lags behind their hearing peers.

The registry aims to help more children reach their developmental, learning and health potential by identifying those needing additional services and uncovering areas for improvement.

It could also address important questions about the benefits of hearing aids or early intervention for children with mild and unilateral (which only affects one ear) hearing loss. ANCHOR will benefit children like Victoria’s 23-month-old son Lachlan, who has mild hearing loss.

“He was diagnosed after undergoing the newborn screening test and was fitted with hearing aids at two months old,” she said.

“Early intervention was crucial so he could reach his full potential. But it took a while to find the right allied health services that were the best fit for Lachlan.”

Lachlan has regular hearing tests and fortnightly speech therapy, and attends a playgroup for deaf and hard-of-hearing children. Victoria said a national registry would ensure deaf and hard-of-hearing children don’t fall further behind their peers.

Lachlan, at 23 months, has regular testing and fortnightly speech therapy for mild hearing loss.

GenV: transforming research for children’s health

“We joined GenV because, first of all, it was easy, but also we know how important data collection is. Our middle daughter Reggie was born deaf and so we were lucky enough that there had been research studies prior to her hearing loss that we’re able to direct the best method of care for her. Such a big data collection opportunity that involved very little from us”

Jess and son Koah have signed up for Australia’s largest cohort study of children and their parents.

Imagine a world where children thrive - free from anxiety, illness and disadvantage. GenV (Generation Victoria) is helping to build this future by advancing prevention, early detection and tailored services so every child can have the best start in life and every parent can look forward to their longest and healthiest future.

Learn more about the potential of GenV to transform child health.

GenV is Australia’s largest-ever cohort study of children and parents and the only mega-cohort to launch globally in the 2020s. It is tracking the health and wellbeing of nearly 125,000 participants - 50,000 children born between October 2021 and October 2023 and their parents/guardians - and will grow as eligible families continue to join over time. Its model integrates consented cohort data, biosamples, linked administrative, services, policy and environment data, and an Open Science platform, collecting information once to maximize long-term value and insights.

GenV’s uniqueness extends beyond size and design. It is grounded in inclusion, with unique collaborations and trust between parents, researchers, communities, policymakers and practitioners. It reflects the diversity of Australian families, ensuring that GenV’s insights

are relevant to all. Whoever you are, wherever you live and whatever language you speak, you can be part of GenV.

Unlike other cohorts, GenV has a unique ability to test interventions at scale or in place. Launching in 2025, the Intervention Hub will be a space where researchers and families can trial new approaches: What really works? For whom? Is it fair? Is it worth it? This will help speed up solutions, moving beyond traditional ‘watch and describe’ research approaches.

Drawing on MCRI’s history of innovation, GenV is designed to take research to families rather than bringing families to research. This means we need to work out new ways to measure and track a broad range of factors at a scale never before possible - from growth, heart, lung, eye, and brain health to learning, mental health, and wellbeing – and in turn building exciting partnerships with technology. Though still only toddlers, GenV’s children are already experiencing an era of profound change, from the COVID-19 pandemic to extreme weather and geopolitical shifts. Past data can’t always guide what’s best for today’s children, but GenV can.

SPOTLIGHT: TACKLING A HIDDEN THREAT TO NEWBORNS

Congenital cytomegalovirus (cCMV) is a leading cause of childhood hearing loss and disability but often goes undetected at birth, missing the window for lifechanging treatment. Australia lacks universal screening, leaving many children without timely intervention.

GenV offers a breakthrough opportunity to change this. Partnering with the Screen cCMV project led by A/ Professor Valerie Sung, GenV is testing whether largescale cCMV screening could make a difference. Using its saliva samples from ~30,000 newborns, GenV is the only platform ready to develop an efficient, scalable test and assess its long-term impact across all population sectors. Its statewide reach enables real-world insights into effectiveness and cost-benefit outcomes.

A standalone study at this scale would be prohibitively expensive and complex. But with GenV’s consented cohort and existing biosamples, it becomes feasible. This research could make newborn cCMV screening routine, improving lifelong outcomes for Australian children.

BUILDING GENV’S BIOSAMPLE RESEARCH CAPABILITY

GenV now has Australia’s largest saliva collection with over 100,000 parent and child samples. This vast resource allows researchers to explore biological factors influencing health and disease in diverse populations. GenV also holds Australia’s largest paired collection of breastmilk and newborn stool samples – around 6,500 of each – enabling GenV to uniquely explore the interplay between breastmilk composition, infant gut health and overall wellbeing. Coupled with GenV’s broad data in other domains, this resource could shed light on vital areas such as mental health, obesity and allergies.

KICKING GRANT GOALS: BUILDING NATIONAL RESEARCH INFRASTRUCTURE

GenV secured $9.5 million through two competitive Medical Research Future Fund (MRFF) grants to strengthen national research infrastructure. Working

with partners across Australia, these projects will expand GenV’s capacity to support researchers, policymakers and the community sector to accelerate progress towards better and fairer services, policies and outcomes for all Australians.

One $7 million grant, led by GenV’s Scientific Director and Paediatrician Professor Melissa Wake, is enhancing GenV’s data platform by adding detailed geospatial and clinical data. The team has already designed the technology requirements for GenV’s Open Research Platform and the cloud systems it needs to securely manage, collaborate and analyse data – laying the groundwork for robust and scalable technology capability. At the same time, GenV’s Deputy Director Professor Sharon Goldfeld AM is leading a $2.5m project to create GenV as a consented, linked national research resource focussed on early and midlife health solutions. In early progress, the GenV cohort has been linked with the Centre for Victorian Data Linkage (Victorian Government data). The next step is linking with Commonwealth data, ensuring safe, secure access to large-scale data at scale. By linking GenV’s rich data with existing records, this work will provide a powerful tool for understanding and improving health outcomes for generations to come.

Saada and 19-month-old Mya signed up to GenV when Mya was born. Inset: Saada with Mya at two weeks old.

PICTURE: DAVID CAIRD, HERALD SUN

Dr Suzanne Mavoa, A/Prof Valerie Sung, Prof Terry Dwyer and the Scientific Director of GenV, Prof Melissa Wake.

PICTURE: JAKE NOWAKOWSKI, HERALD SUN

New insight links children’s lungs and immune systems

Melbourne researchers have made a breakthrough in understanding how two chronic respiratory diseases in childhood can affect the immune system, paving the way for better treatments.

The research, led by the MCRI Respiratory group, found suppurative lung disease and wheezing have the same inflammatory profiles despite their differing symptoms.

The study, involving 93 children at The Royal Children’s Hospital, discovered two treatable disease subtypes with similar immune signatures. Dr Melanie Neeland said the findings could change clinical management if validated.

“They provide a significant advance in our understanding of lung inflammation in children with wheeze and suppurative lung disease,” she said.

About 50 per cent of children in each disease group showed a hyper-inflammatory response treatable with existing therapies. Targeted anti-inflammatory treatments, such as repurposing asthma medication, could form a new approach.

Preschool asthma or wheeze is a major cause of hospital admissions and long-term poor lung function. Suppurative lung diseases are characterised by chronic cough and airway obstruction.

Dr Shivanthan Shanthikumar highlighted the lack of effective treatments for children, especially for a chronic cough, which often relies on long courses of antibiotics despite their limited effectiveness. Managing these diseases better could reduce the risk of antimicrobial resistance.

“We can better manage chronic respiratory diseases if we can identify and target inflammatory profiles which underlie these serious health conditions,” he said.

HOW AGE CAN AFFECT AIRWAY IMMUNITY

Millions of children and adolescents worldwide are impacted by respiratory illnesses, but not enough is known about how the immune system functions in young lungs, while current treatments are limited and often ineffective.

However, using a cell analysis known as flow cytometry, the MCRI researchers have mapped how the immune system functions, moves and connects with other cells through the lungs.

Dr Neeland and Dr Shanthikumar, who led the research, drew on data from 68 children aged between one and 15 years, focusing on five separate airway issues.

They found a link between the age of a child and the number of immune cells present in their tonsils, adenoids and blood, as well as their air passage size.

The type and number of these cell interactions ultimately shapes immunity.

The study also showed that immune cells behaved similarly in the nose and lower airway as well as in the tonsils and adenoids.

Dr Neeland said the findings deepened understanding of childhood lung function, which could lead ultimately to less-invasive nose sampling to assess immunity in the lower airway.

The reference dataset produced from the research could also be used as ‘control data’ in future studies to help other researchers interpret clinical findings.

STOPPING STREP A IN ITS TRACKS

Researchers have discovered how antibodies help to protect people against contagious bacterial infections caused by Strep A, including strep throat. The findings are already contributing to efforts to accelerate the development of a Strep A vaccine.

The research, led by the MCRI Vaccine Challenges team, in collaboration with Monash University and the University of Auckland, used the world’s only human challenge model for Strep A to uncover how antibodies respond to strep throat infections.

Strep A infections affect about 750 million people and kill more than 500,000 globally every year, more than influenza, typhoid or whooping cough. Strep A can also cause severe life-threatening infections such as toxic shock syndrome, flesh-eating disease and postinfectious illnesses such as acute rheumatic fever, rheumatic heart disease and kidney disease.

Dr Joshua Osowicki said the research showed the power and potential for the human challenge model to help crack the secrets of Strep A and accelerate vaccine development.

The findings, published in Nature Communications, looked closely at antibodies produced against different parts of Strep A bacteria, comparing blood and saliva results before and after the Strep A challenge. The challenge involved exposing 25 healthy adults to a low level of Strep A bacteria in a controlled environment.

“With Strep A being extremely common and every healthy adult having previously encountered it, all the participants had some antibodies against Strep A before the study,” Dr Osowicki said.

“We found each person’s pre-existing antibodies made a difference to what happened when they were exposed during the challenge. For some, the mixture of antibodies before the challenge helped to protect them from developing a strep throat infection. Even in those who did develop strep throat, with symptoms like a sore throat and fever, it was clear their pre-existing antibodies made a difference to clinical outcomes.”

Importantly, the response to Strep A in the participants resembled those seen in children who will be first in line for a Strep A vaccine.

Dr Osowicki said developing an effective vaccine had been difficult as there were big gaps in our understanding of how humans are protected against Strep A infections.

“The bulk of Strep A research has used animal models but only humans are naturally infected by Strep A,” he said. “This research helps vaccine developers answer that key question and proves that we can use our human model to test promising vaccine candidates and explore how they work.”

In late 2024, Dr Osowicki led a successful application to the Wellcome Trust by a consortium of 10 academic and industry partners for $10 million to establish a multinational Strep A human challenge trial group which will accelerate and decolonise vaccine discovery.

The teams will test different ideas about which kinds of immune responses stop people from getting Strep A infections. A vaccine that can produce similar responses should prevent infections across the whole Strep A disease spectrum.

Dr Joshua Osowicki is working to accelerate a vaccine against Strep A bacterial infections.

New partnership to improve child health in Asia-Pacific

School children in Fiji during the scabies mass drug administration.

PICTURE: WHO, TOM VIERUS.

The federal government awarded MCRI a strategic grant in 2024 as part of its Partnerships for a Healthy Region Initiative.

MCRI will partner with 12 countries in the Pacific and South-East Asia under the $10 million initiative to improve child and adolescent health across the region.

Murdoch Children’s Research Institute

is a signatory to the ACFID Code of Conduct, which is a voluntary, self-regulatory sector code of good practice. As a signatory we are committed to, and fully adhere to, the ACFID Code of Conduct, conducting our work with transparency, accountability and integrity.

The three-year funding will be used to establish the ReALiSE – Regional Alliance for Learning in Systems for Equitable Child and Adolescent Health – program to strengthen resilience in public health systems and engage with local communities to improve the health of children and young people throughout the region.

Over 60 per cent of the world’s young people live in the Asia-Pacific. This translates into more than 750 million people aged 15 to 24 years.

“We are deeply committed to working with young people and communities, our local partners and the Australian government through this regional health partnership to build expertise and capacity to improve child and adolescent health in the region,” said MCRI Infection, Immunity and Global Health Director Professor Andrew Steer.

As part of the initiative, MCRI will work with 26 local organisations to:

Strengthen health systems data to improve care and the use of oxygen as an essential medicine in Cambodia, Lao PDR and PNG

About 60 per cent of deaths in low- and middle-income countries could be addressed by improving quality of care. ReALiSE will support health facilities in Laos and Papua New Guinea (PNG) to use local data to improve quality of care.

Improved oxygen systems at the district-hospital level have been shown to reduce hospital deaths from pneumonia by 50 per cent and all-cause mortality by 25 per cent. MCRI is working to understand how to sustain improvements in oxygen systems alongside local health ministries, through the MOXY program led by the Clinton Health Access Initiative (CHAI), supported by the ELMA Foundation. ReALiSE will apply lessons learnt from the MOXY program in Nigeria and Uganda to strengthen oxygen systems in Cambodia and Laos.

This work has built on PNG’s approach to strengthening oxygen systems, including using renewable energy for climate-resilient oxygen systems.

Improve public health control of neglected tropical diseases, such as scabies, in Fiji, Kiribati, Solomon Islands, Tonga and Tuvalu

The World Scabies Program (WSP) is working with governments and partners to eliminate scabies as a public health problem. The program aims to put scabies

control on national and global agendas, implement community-wide treatment strategies, and strengthen health systems to monitor and manage scabies.

In 2024, the WSP and the Ministry of Health and Medical Services Solomon Islands completed the second mass drug administration (MDA) for scabies. Solomon Islands is the first country in the world to complete two national MDAs for the condition. The program was funded by the Department of Foreign Affairs (DFAT) through the Australian High Commission in Solomon Islands and supported by Macquarie Group Foundation.

In Fiji, the WSP also successfully completed a national post-MDA scabies prevalence survey.

Engage young leaders to strengthen evidence-based policy for adolescent health in Fiji and Indonesia

Around 70 per cent of all global deaths due to noncommunicable diseases (NCDs) are the result of health-related behaviours that begin in childhood and adolescence. Effective prevention of NCDs requires action across the life-course, with adolescence seen as a critical time.

ReALiSE will build on our previous work with partners in Indonesia, including a population-based survey measuring the prevalence of key NCD risks among adolescents, mapping and consultation of NCD control policy and programs, and engaging key stakeholders to learn how to increase youth participation, undertaken in partnership with UNICEF. ReALiSE will apply learning from Indonesia to collaborate with Fiji’s Ministry of Health and Medical Services to understand the burden of NCD risk and existing policy and program responses.

Strengthen communicable disease surveillance and evidence for regional investment in vaccines in Fiji, Indonesia, Lao PDR, the Philippines, Thailand and Vietnam

Immunisation is one of the most cost-effective and successful health investments. However, decisions about vaccine policy have become increasingly complex.

ReALiSE will contribute to the evidence for the introduction, scale-up and sustainability of vaccines in

the region, including for human papilloma virus (HPV), pneumococcus, rotavirus and typhoid. In 2024, MCRI convened the Asia Pacific Vaccine Research Network through the DFAT Australia Awards Fellowships.

ReALiSE will consolidate this community of practice to strengthen a systematic approach to immunisation policy in the region.

Engage young people, families and communities to improve vaccine uptake in Indonesia and the Philippines

Public perception of the importance of childhood vaccines declined during the COVID-19 pandemic, exacerbated by increased mis- and disinformation and lack of access, causing the largest sustained backslide in childhood immunisation in 30 years. As a result, there are an estimated 3.4 million “zero-dose children” in South-East Asia and the Pacific.

To address mis- and disinformation. MCRI investigated factors affecting COVID-19 and routine vaccine uptake in low-coverage regions of the Philippines, and codesigned and delivered interpersonal communication training for community leaders, in partnership with UNICEF. ReALiSE will implement the next phase of the program with local partners and community leaders in Indonesia and the Philippines.

A young boy in Vunidawa, Fiji, receiving a vaccination for scabies.

PICTURE: WHO, Jason Chute.

Dr Lucas de Toca, Australia’s Ambassador for Global Health, signing the agreement with MCRI Director Prof Kathryn North AC alongside the MCRI Global Health team.

Our work is centred on our passion to improve children’s health and wellbeing. Whether our work occurs in the lab, the community, the clinic or the office, children are at the heart of everything we do.

all times. Read her story on page 41.

Mae has multiple food allergies and must carry an epipen with her at

3

Living our values

We aspire to provide a truly inclusive place to work where all staff, regardless of gender, carer status, age, disability, cultural background, religion or sexual orientation are supported in reaching their full potential. We are continually guided by a strong set of beliefs that shape how we think and act as an organisation. Our values shape how we behave, how we treat other people, and how we make decisions with clarity.

Prizes and awards

Once again, researchers at MCRI featured prominently in a wide range of local and international awards in 2024. The commendations recognise the enterprise and ground-breaking research of our dedicated team who work tirelessly to improve the lives of children across the globe. We acknowledge their success with deep gratitude.

PROFESSOR

ANDREW STEER

Gustav Nossal Medal, awarded by the Australian Academy of Science, acknowledging his leading global health research across infectious diseases, nutrition and vaccine development.

MCRI CHIEF SCIENTIST

PROFESSOR

MELISSA LITTLE AC

Gained European Molecular Biology Organisation membership, which honours distinguished scientists who have made outstanding contributions to the life sciences.

DR SEAN HUMPHREY

Peter Doherty Investigator Award for the highest-ranked Investigator grant in the Emerging Leadership category by the National Health and Medical Research Council (NHMRC). Dr Humphrey also received the Commonwealth Health Minister’s Award, presented by Health Minister Mark Butler in Canberra, which recognises the outstanding achievements of an Australian medical researcher and the positive future impact of their work.

DR HOLLY VOGES

Australian Society for Stem Cell Research (ASSCR) 2024

Rising Star Award, which recognises the outstanding contributions of ASSCR members who have demonstrated excellence in research, leadership and advocacy in the early stages of their careers.

DR DAISY SHEPHERD

Science and Technology

Australia’s Superstars of STEM award, presented by Industry and Science Minister Ed Husic, which recognises leading Australians in science, technology, engineering and mathematics.

PROFESSOR ANDREW DAVIDSON, PROFESSOR

KATHERINE LEE AND FRANCESCA ORSINI

Trial of the Year: Australian Clinical Trials Alliance Excellence in Trial Statistics Award on behalf of the BRACE BCG vaccine trial study team, Clinical Epidemiology and Biostatics Unit (CEBU) and Melbourne Children’s Trials Centre (MCTC).

HONORARY

PROFESSOR ROBERT

WEINTRAUB AM

Member of the Order of Australia (AM) for his significant service to paediatric medicine and research, which has helped improve our understanding of heart diseases in children spanning pulmonary hypertension, heart failure and heart transplants.

PROFESSOR

SHARON GOLDFELD AM

Member of the Order of Australia (AM) for significant service to children’s health as a paediatrician, academic and public health researcher. Prof Goldfeld was also elected to the Australian Academy of Health and Medical Sciences (AAHMS).

DR JAMES MCNAMARA

Australian Physiological Society’s AK McIntyre Medal, which recognises outstanding achievements and contributions to physiology by an early- to mid-career researcher and is the highest honour bestowed by the society.

HONORARY

PROFESSOR

VERA IGNJATOVIC AM

Member of the Order of Australia (AM) for her work across childhood disorders as well as her dedication to promoting science, technology, engineering and mathematics (STEM) to under-represented groups.

PROFESSOR

ENZO PORRELLO

Fellow of the International Society for Heart Research, which highlights his significant contributions to the field of cardiac research and his commitment to advancing heart regeneration science.

JONATHAN GLENNING

Australian and New Zealand Society for Paediatric Nephrology Tonya Kara Paediatric Research Award for his childhood blood pressure screening program.

ASSOCIATE PROFESSOR

RACHEL PETERS

Stallergenes Greer Foundation Science

Innovation Award for Allergy for her research aimed at reducing the adverse effects of infant food allergy on future health.

PROFESSOR SARATH RANGANATHAN

Elected to the Australian Academy of Health and Medical Sciences, which recognises the brightest minds in health and medical sciences.

DR RHIANNON WERDER

Metcalf Prize for Stem Cell Research from the National Stem Cell Foundation of Australia for her research, which aims to better understand how lung cells work together to fight off infections and potentially discover new therapies for respiratory infections.

DR GERARDO LUIS DIMAGUILA AND DR MUHAMMAD JAVED

GSK Immunisation Award, on behalf of MCRI’s Centre for Health Analytics, for their work in detecting vaccine misinformation.

3,314

Gender equity, diversity and inclusion

PUTTING GOVERNANCE STRUCTURES IN PLACE TO ENSURE FUTURE SUCCESS

The SAGE Accreditation Pathways is the primary mechanism MCRI uses to evaluate our progress towards gender equity, diversity and inclusion (GEDI) and to guide our actions in addressing the main barriers to the attraction, progression and retention of people of all genders.

Since receiving SAGE Athena Swan accreditation in December 2023, we have been building the systems and processes to implement and deliver our 2024-2031 MCRI SAGE Action Plan, comprising more than 150 actions addressing six key priority areas. Through this action plan MCRI is creating the systems and environment which will enable greater gender equity across all levels of the Institute. This includes:

• Establishing targets to increase the representation of women at senior levels

• Establishing the systems infrastructure to deliver GEDI

• Increasing the number of men recruited at entry levels

• Adjusting promotions processes to be more inclusive

• Training our people in GEDI

• Establishing acceptable behaviours, evaluating performance and ensuring that GEDI is part of everyone’s responsibility. Priority area one (policies and procedures) was focused on in 2024 with updates to our policies, ways of working and gender equity governance in progress or completed.

OUR LEADERSHIP DEVELOPMENT PROGRAMS

In 2024 we ran the following internal programs:

• Two Leadership Aspirations programs (48 participants) for new and emerging leaders

• Two Leading Self and Others programs (41 participants) for established leaders who lead teams

• Beyond Mentoring program (29 mentors and 29 mentees participated drawn from various roles and groups across MCRI and VCGS)

• Six New Starter Coffee Connects (81 participants).

Celebrating excellence across the Institute

MCRI and VCGS staff play a vital role in advancing our shared purpose to give all children the opportunity to live a healthy and fulfilled life. To help celebrate excellence across the Institute, staff are invited to nominate their peers for the MCRI and VCGS Staff Awards, which recognise those who go above and beyond, inspire others as mentors and embody a spirit of collaboration.

Winners of the MCRI and VCGS Staff Awards for 2024

Above and Beyond Award

Recognises individuals who consistently go the extra mile in their role, demonstrating extraordinary dedication, initiative and a commitment to excellence. Celebrates individuals who exceed expectations through contributions to their team and the Institute.

Susie Germano, Senior Project Co-ordinator, Infectious Diseases, Infection, Immunity and Global Health

Olivia Van Reyk, Research Assistant, Speech and Language, Genomic Medicine

Natasha Letunica, Research Assistant, Haematology, Clinical Sciences

Collaborative Spirit Award

Recognises someone who creates synergies through teamwork and collaboration.

Associate Professor Fernando Rossello, Principal Research Fellow, Transcriptomics and Bioinformatics, Stem Cell Medicine

Creativity and Innovation Award

Acknowledges the efforts of individuals who boldly explore new concepts and approaches.

Dr Suzy Honisett and Lauren Heery, Team Leader/Senior Research Officer and SSI Manager, Policy and Equity, Population Health

Denis Bienroth, Research Assistant Software Developer, Transcriptomics and Bioinformatics, Stem Cell Medicine

Will Boland and Hannah Carney, Project Lead and Software Developer and Project and UX Lead, VCGS Lab Management, VCGS

Emerging Leader Award

Recognises an individual who actively seeks growth opportunities, while also mentoring and uplifting their peers.

Samantha Losinno, Team Leader (DNA Extraction), DNA Unity and Sequencing, VCGS

Excellence Award

Celebrates an individual who demonstrates an unwavering commitment to excellence in all aspects of their work.

Harriet Edmund, Communications Manager, NACE/CFAR, Population Allergy, Population Health

Helen Flett, Communications and Engagement Manager, Stem Cell and ReNEW, Stem Cell Medicine

Professor Kathyrn North AC (centre) with MCRI and VCGS staff award winners at the 2024 Town Hall.

Impact Award

Recognises those who have made a meaningful impact on the lives of children and families and/or the research community by influencing practices, policies or public understanding through their contributions.

Professor Angela Morgan, Group Leader/Senior Principal Research Fellow, Speech and Language, Genomic Medicine

Dr Katy de Valle, Research Physiotherapist, Neuroscience, Clinical Sciences

Integrity and Inclusion Award

Highlights individuals who exemplify the highest standards of integrity and inclusion.

Dr Alison Compton, Team Leader/Senior Research Officer, Brain and Mitochondrial, Genomic Medicine

Associate Professor Ken Pang, Group Leader/Senior Principal Research Fellow, Transgender Health, Clinical Sciences

Mentor Award

Recognises staff who guide, empower and support people and teams towards achieving individual and Institute goals.

Dr Kiymet Bozaoglu, Team Leader/Senior Research Officer, Neurogenetics (BLC), Genomic Medicine

Associate Professor Mirana Ramialison, Group Leader/Principal Research Fellow, Transcriptomics and Bioinformatics, Stem Cell Medicine

Rising Star Award

Shining the spotlight on individuals who have demonstrated exceptional potential and performance early in their career.

Dr Holly Voges, Senior Research Officer, Heart Regeneration, Stem Cell Medicine

Kate Silvey, Digital Content Producer, Communications, Engagement and Development

Dr Conor McCafferty, Cancer Flagship Project Manager, Neurooncology, Stem Cell Medicine

VCGS Employee of the Year

Recognises someone who consistently goes the extra mile in their role, demonstrating extraordinary dedication, initiative and a commitment to excellence at VCGS.

Harvinder Arora, Clinical Administrative Officer, Clinical Services, VCGS

Special Mention

Jo White, Receptionist, Level 5, MCRI

“In today’s rapidly evolving medical landscape, we face a striking paradox: the pace of discovery has never been faster, yet the funding required to sustain that progress is harder than ever to secure.

As public budgets tighten and health challenges grow more complex, philanthropy’s vital role as a rapid, agile and innovative precursor to government support is crucial in driving medical research forward.

At MCRI, we are profoundly grateful to every one of our donors. Your generosity fuels the breakthroughs that improve and save children’s lives. Your belief in our purpose gives us the confidence to pursue bold ideas, act swiftly in moments of urgency, and invest in the long-term health and well-being of future generations.”

MATTHEW HANNAN DIRECTOR, ENGAGEMENT & DEVELOPMENT

4 Securing their future

It is with sincere gratitude that we acknowledge the support of state and federal governments, industry and commercial partners, individual donors, bequestors and trusts and foundations for providing the resources required to translate our child health research into tangible solutions for children and families. Thanks to our valuable and ongoing partnerships we can advance with agility.

A decade of impactful partnership for child health

ABOVE: SFMRF

Trustees visiting MCRI (L-R): Dr Alejandro HidalgoGonzalez, Anne Marie Gasbarro (SFMRF), Ken Wallace (SFMRF), Dr Sean Humphrey, Dr Timothy Johanssen and Dr Henry Beetham.

Over the past decade, the partnership between the Stafford Fox Medical Research Foundation (SFMRF) and MCRI has had a profound impact on child health research. Through an investment of more than $12 million, SFMRF has played a crucial role in advancing MCRI’s stem cell medicine effort and building essential research infrastructure, offering new hope for children affected by conditions such as brain cancer, heart disease and autism.

The collaboration began 10 years ago with SFMRF’s initial support for the purchase of a flow cytometer, an essential piece of equipment that analyses and sorts cells based on their characteristics, which continues to play a vital role in MCRI’s research today.

This early investment set the scene for continued contributions from SFMRF, including the establishment of MCRI’s Drug Discovery Facility, which is accelerating the development of new therapies. SFMRF has also supported the creation of a new laboratory space for the heart, muscle and brain research teams as well as the installation of Australia’s first Thermo Scientific™ Orbitrap™ Astral™ Mass Spectrometer – one of the first in the world.

The mass-spectrometer allows researchers to study proteins with unprecedented speed and precision, significantly advancing discoveries in stem cell research and childhood diseases.

Professor Enzo Porrello, Director of Stem Cell Medicine at MCRI, emphasised the significance of SFMRF’s ongoing support. “Without SFMRF’s long-standing and significant contribution, we would not have had the resources to achieve the breakthroughs we have made today,” he said.

Starting out as a team of just four researchers, the Stem Cell Medicine theme has since grown into a large and diverse group of more than 250. Professor Porrello, a Stafford Fox Fellow in 2017, has played a leading role in this growth, helping to guide the team as they address increasingly complex research questions.

One of the stand-out achievements of this partnership is the work of Associate Professor Elizabeth Ng. With initial seed funding from SFMRF in 2018, she was able to secure a $1 million NHMRC Grant the following year, which further underpinned her world-leading research.

This was followed by additional support from the Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), which enabled A/Prof Ng to develop blood stem cells in the lab that closely resemble those found in the human body – a world first.

This major breakthrough is advancing the development of personalised treatments for children with leukaemia and bone marrow failure disorders.

SFMRF has also supported Associate Professor David Elliott and Associate Professor Rachel Conyers in their research on cardiotoxicity, which aims to reduce the significant damage caused by chemotherapy to the hearts of children receiving cancer treatment.

In 2022, MCRI established the reNEW partnership, an international research consortium funded by one of the largest philanthropic organisations in the world, which focuses on translating world-leading research into stem cell-based therapies.

The consortium is led by MCRI’s Professor Melissa Little AC as CEO and includes key partnerships with the University of Leiden, The Netherlands, and the University of Copenhagen, Denmark.

Thanks to SFMRF’s ongoing support, MCRI continues to lead the way in child health research, offering hope for children today and making significant strides towards new treatments.

MCRI extends its heartfelt thanks to SFMRF for its invaluable partnership and support.

ABOVE: SFMRF trustees and MCRI leaders celebrate 10 years of transformational giving (left to right): Danny and Anne Marie Gasbarro, Prof Kathryn North AC, Rebecca Harford, Dr Katherine Howell, Prof Enzo Porrello, Matthew Hannan, Marian and Ken Wallace, Prof Melissa Little AC.

The first Thermo Scientific™ Orbitrap™ Astral™ Mass Spectrometer (MS) installed in Australia, and one of the first in the world.

LEFT:

Heartfelt stories of fundraising

Across our communities, inspiring stories of generosity and collaboration have shaped our fundraising efforts, from community-led fundraisers and meaningful events with donors, to media engagements and strategic partnerships. These stories not only reflect the spirit of giving but also the powerful connections that drive our purpose to give all children the opportunity to live healthy and fulfilled lives.

PHILANTHROPY TO THE FORE

MCRI’s Biennale brought together more than 100 supporters to showcase the work of Associate Professor Dan Pellicci in immunology, addressing critical child health issues such as cancer, heart disease, allergies and infectious diseases. The event, led by MCRI’s Development Board, highlighted how philanthropy fuels seed funding and fosters long-term partnerships, driving research that improves child health outcomes.

ABOVE: Heart patient Charlotte Reindler (centre) with her Big W heart token, kicking off the retailer’s Toy Sale, which raised funds for MCRI Heart Research.

ABOVE RIGHT: Mathew and Coralie’s daughter Ivy visits MCRI.

RAISING FUNDS FOR CHILDREN’S HEART HEALTH

Over the past 20 years, BIG W has raised more than $3 million for heart research at MCRI, with all 29 stores in Victoria supporting the cause. In 2024, their ongoing efforts, including heart tokens and corporate donations, continued to fund vital projects that improve heart health for babies and children.

“Our team is passionate about making a difference. Knowing our efforts support sick children and their families is what truly drives us,” said BIG W Area Store Manager Sam Mikhail.

PARENTS’ 100KM CHALLENGE SUPPORTS EPILEPSY RESEARCH

Mathew and Coralie, parents of Ivy, who has a severe genetic epilepsy known as Dravet syndrome, launched a fundraiser in late 2024 to support epilepsy research at MCRI. Mathew swam 100 kilometres and Coralie walked 100 kilometres, raising an incredible $24,000. Their dedication and resilience are helping advance research that could transform the lives of children with epilepsy.

TAKING BREAKTHROUGH RESEARCH TO THE US

In 2024, MCRI significantly expanded its presence in the United States, engaging in key media campaigns and partnerships to share its ground-breaking research. Highlights were discussions on projects such as Decoding Broken Hearts, aimed at improving treatments for childhood heart disease.

MCRI also announced a new travel scholarship at the American Australian Association Benefit Dinner in New York to support collaboration between researchers in both countries, driving innovation in medical research.

Live for Lily Foundation riders during the 2024 Velo de Vic, which took them on a gruelling 1,000-kilometre ride through Victoria. Starting and finishing at The Royal Children’s Hospital, they rode through Mansfield, Bright, over Mount Hotham, through Omeo, Metung and Philip Island, and back to Melbourne.

ON YER BIKES, IN MEMORY OF LILY

The Live for Lily Foundation was established in 2016 in memory of Lily Hester, who passed away at the age of nine after facing a rare liver cancer. The foundation works to raise awareness and funds for childhood cancer research at MCRI and the Children’s Cancer Institute. Their mission is to find a cure, so no family experiences what they went through. In 2024, they raised funds through the annual Ride for Lily and the biennial Butterfly Ball.

“I am proud to see the impact that Lily is continuing to have, 10 years after she was taken away from us. We will continue riding and raising funds, supporting vital cancer research until a cure for childhood cancer is found. Thank you to all those who support Live for Lily and help us fund childhood cancer research,” said Lily’s dad, Aaron Hester.

Celebrating our ambassadors

In 2024, we proudly celebrated the 10th anniversary of the Council of Ambassadors. Over the past decade, this extraordinary group of women has played a pivotal role in advancing child health research.

The council brings together leaders from government, media, science, philanthropy and business. Their support has helped MCRI address urgent health challenges affecting children – from allergies and obesity to cancer and mental health.

“The Council of Ambassadors has been invaluable to MCRI over the past 10 years. Their expertise, generosity and genuine commitment to our work have helped drive real change in child health. It is a truly special group of leaders and all of us at MCRI are deeply grateful for their ongoing support,” said MCRI Director Professor Kathryn North AC.

A stand-out moment came in 2016 when the council travelled to Fiji to witness MCRI’s ground-breaking research in rheumatic heart disease, which can be a downstream complication of scabies infestation. Seeing the impact of our global health work firsthand deepened the council’s commitment to MCRI’s efforts to reduce the burden of disease in the Pacific Islands.

Council member Jean Miller later played an integral role in advocating for MCRI and was instrumental in securing a $10  million grant from the Macquarie Group in 2018. This funding enabled the world-first mass drug administration (MDA) of a treatment for scabies in Fiji and Solomon Islands, leading to remarkable results.

Professor Andrew Steer, who leads the WSP project, said it was an amazing experience to have the council in-country in 2016. “Thanks to the council’s support, we’ve seen tremendous progress, with the health and quality of life of thousands of children improving dramatically,” he said.

Inspired by Dame Elisabeth Murdoch’s legacy, the council’s partnership has had a lasting impact, contributing to a healthier future for children around the world.

MCRI’s Council of Ambassadors in Fiji in 2016, and (inset) meeting in 2024.

Nurses

John

Foundation support improves child health outcomes

The Cameron Foundation has been instrumental in improving global health through its support of MCRI over more than a decade. Its strategic philanthropy and commitment to world-class research have led to tangible improvements in children’s health around the world.

A notable contribution is the foundation’s support of the World Scabies Program (WSP), a global initiative aimed at eliminating scabies as a public health problem. Thanks to the foundation, WSP conducted a national scabies survey in Kiribati, revealing that nearly a quarter of the population, particularly young children and infants, were affected. This data enabled Kiribati’s first nationwide mass drug administration (MDA) for scabies, scheduled for 2025. WSP’s approach focuses on sustainable solutions and strengthening local health systems for lasting impact.

The Cameron Foundation has also played a crucial role in advancing MCRI’s Centre for Community Child Health (CCCH), with its funding helping to develop the Relational Practice Framework. The framework will enhance professionals’ ability to engage relationally with families, thereby improving child and family health and wellbeing outcomes.

The foundation’s continued support underscores the importance of trust and strategic partnerships in addressing complex health challenges.

“Visiting MCRI is such an enjoyable and inspiring experience, as is meeting with the enthusiastic researchers who brief us on the programs we are supporting,” the foundation shared. “We are committed to continuing our relationship with this innovative institute.”   MCRI is grateful for the Cameron Foundation’s ongoing contribution, which continues to drive transformative change in global children’s health.

training to deliver the MDA in Kiribati. INSET:

and Alison Cameron, directors of the Cameron Foundation.

Helping future families navigate the unknown

Greg Cremen’s journey with medical research began with a decades-old mystery. As a child, Greg struggled with unexplained muscle weakness, and doctors could not provide answers. “Nobody knew what was wrong with me,” he recalls.

“They couldn’t tell my parents if there was any cure or any process to overcome the condition.” His parents, grappling with the unknown, sought answers that did not yet exist. It was not until Greg was 12 that he was diagnosed with nemaline myopathy following a muscle biopsy, but the underlying genetic cause remained a mystery.

Years later, Professor Kathryn North AC and her research team were studying the genes associated with rare muscle diseases. Greg was one of the patients they studied, and their research finally uncovered the genetic mutation responsible for his condition. “We were able to solve an almost 40-year-old mystery,” Prof North AC said. Identifying the genetic cause of nemaline myopathy provided long-awaited answers – not just for Greg, but for many others living with the condition.

For those with rare diseases, knowing the genetic cause is life-changing. It helps families understand what to expect, opens doors for potential treatments, and –perhaps most importantly – connects patients to others who are facing the same journey, so they know they are not alone.

Greg Cremen and Prof Kathryn North AC reconnected at MCRI in 2024, where Prof North thanked Greg for his generous gift in his will to the Institute.

“It was amazing to have someone so passionate [as Kathryn] take the time to find me, to find the answer – it meant the world.” Greg said.

Today, Greg is committed to ensuring that future generations of children with rare diseases will not have to endure the same uncertainty he once faced. By leaving a gift in his will to MCRI, he is helping create a future where no family is left in the dark about their child’s health. “If I can do something that helps someone in the future – that would be amazing,” he said.

Gifts in wills like Greg’s ensure that vital research can continue, allowing MCRI to find answers faster and provide hope to those living with rare conditions.

Prof North AC, reflecting on the significance of Greg’s contribution, said, “Our gift-in-wills program underpins so much of our research. It’s a legacy that will transform lives.”

For Greg, that legacy is deeply personal. From his parents’ search for answers to Prof North AC’s determination to unlock the mystery of his condition, to his own role in inspiring others – his gift in his will is the next step in a lifelong journey. “I think health and happiness are an amazing achievement in life,” Greg reflected. “And if I can help other people achieve that, I’m a lucky man.”

To learn more about how you can leave a lasting impact through a gift in your will, please visit the MCRI bequests and gifts in wills page today.

INSET: A young Greg Cremen, before being diagnosed with the neuromuscular disorder nemaline myopathy.

Watch Greg’s story by scanning this QR code.

Influencing policy across the globe

The ground-breaking research of Murdoch Children’s Research Institute (MCRI) not only leads the way in advancing child and adolescent health but also plays a pivotal role in shaping policies that improve the wellbeing of children and young people in Victoria, across Australia and internationally.

At MCRI, researchers, clinicians, patients, policymakers and diverse partners work together to ensure the policies and services that support children and families are backed by robust research and evidence.

TRANSFORMING RESEARCH INTO POLICY

In 2024, MCRI partnered with collaborators to inform policies in a range of priority areas involving children and adolescents, spanning cell to society. This involved:

• Australian Genomics (translation of genomic research into clinical practice)

• National Early Years Strategy

• National Guidelines for Early Childhood Health Checks

• Submissions to Senate inquiries on school refusal; the cost of living; poverty in Australia; and online safety and social media minimum age

• Measuring What Matters (Commonwealth Treasury)

• HeartKids (improving the survival and quality-of-life in childhood-onset heart disease)

• Infant and toddler Foods Research Alliance (improving the composition, labelling and texture of commercial foods for infants and young children)

• Healthier Wealthier Families (reducing the impact of poverty on children’s health and developmental outcomes)

• Restacking the Odds (reducing inequities in children’s health, development and wellbeing through early childhood education and care)

• National Allergy Centre of Excellence (transforming the lives of Australians living with allergic disease).

HEALTH IMPACTS ACROSS THE ASIA-PACIFIC

Globally, we work in the Asia-Pacific region to build the capabilities of local governments to conduct research to inform local policies and programs.

In 2024, the Department of Foreign Affairs and Trade (DFAT) awarded MCRI a Strategic Partnership Grant as part of its Partnerships for a Healthy Region Initiative. The three-year funding will be used to establish the ReALiSE program (Regional Alliance for Learning in Systems for Equitable Child and Adolescent Health), which will strengthen resilience in public health systems and engage with youth leaders and local communities to improve the health of all young people. You can read more on page 47.

SOCIAL MEDIA AND CHILDREN

Professor Susan Sawyer AM was invited to provide expert opinion to the Commonwealth Senate Inquiry into Online Safety Amendment (Social Media Minimum Age) Bill 2024. The bill placed the responsibility on social media platforms to address the online harms associated with social media use in children, a world first.

STRENGTHENING RELATIONSHIPS AND TRUST INTERNATIONALLY

Our engagement across state and Commonwealth jurisdictions, and through our four WHO Collaborating Centres, enhances our reputation among decisionmakers, positioning MCRI as one of the world’s most trusted authorities on child and adolescent health. The centres are:

• WHO Collaborating Centre for Child Health

• WHO Collaborating Centre for Adolescent Health

• WHO Collaborating Centre for Research and Training in Child and Neonatal Health

• WHO Collaborating Centre for Scabies Control.

Through these partnerships, we continue to strengthen our integrity and influence in the field, ensuring that child and adolescent health remains a priority in local, national and global policy agendas.

CHAMPIONING VACCINATION

MCRI’s Vaccine Champions Program is a shining example of our collaborative approach to influencing health policy and services in the Pacific.

The program was supported by the Australian government and co-designed by MCRI researchers in partnership with Fiji’s Ministry of Health, UNICEF, The University of Sydney and UNSW Sydney.

The program provides comprehensive vaccine education and training, as well as communication skills training

to deliver information sessions to communities. The sessions help empower local leaders and healthcare workers to become advocates for vaccination and to impart vaccine information within their communities.

The training in 2024 involved 35 ‘champions’ conducting 54 sessions over six months, reaching more than 1,700 people. It focused on COVID-19 boosters for adults, COVID-19 vaccines for five- to 18-year-olds and routine childhood vaccines.

In Fiji, the program brought together faith and village leaders, the Red Cross and coaching staff from Fiji Rugby Union and the Fiji women’s cricket team.

A teacher at Delainamasi Government School in Suva, Fiji demonstrates how to properly wash and disinfect hands.

PICTURE: WHO, Tom Vierus

Fellowships fuel enquiry

A selection of the prestigious fellowships we received in 2024.

Associate Professor Catherine Satzke received a Rebecca Cooper Fellowship from the Rebecca L. Cooper Medical Research Foundation for her Strep A and influenza research. She plans to use the $1.5 million grant to examine the damage caused by a co-infection of Strep A and flu, why this occurs and whether other viruses behave the same way.

Dr Danielle Longmore was awarded a 2024 Diabetes Australia Research Establishment Fellowship by the Royal Australasian College of Physicians (RACP) Foundation to support her type II diabetes research. The $50,000 grant will enable Dr Longmore to speak directly with young patients with type II diabetes and establish which areas they believe require more research focus.

PhD candidate Erin Crellin received a June Opie Fellowship from The University of Auckland for her genomics research. The $NZ20,000 grant will support her research which is using a codesign approach to understand family experiences of genomic testing and develop ways of evaluating these experiences when genetics is provided by paediatricians rather than genetic specialists.

Dr Michelle Tennant was awarded a Col Reynolds Fellowship from The Kids’ Cancer Project for her children’s cancer treatment research. Dr Tennant will use the $500,000 to test if virtual reality (VR) can help improve the patient experience and decrease the use of general anaesthesia in children receiving radiotherapy.

Four MCRI researchers each received a $74,000 Fostering Achievement in Research (FAIR) Fellowship from the Victorian endowment for science knowledge and innovation (veski), awarded to those who narrowly miss out on National Health and Medical Research Council (NHMRC) Investigator Grants.

Associate Professor Rachel Conyers received funding to reduce the side-effects of intensive cancer treatments like chemotherapy and radiotherapy, such as damage to the heart or reproductive systems.

Dr Anna Price’s research aims to better support families in the first 2,000 days of a child’s life, focusing on what drives lifelong physical, mental and social development.

Associate Professor Suzanne Mavoa’s project will harness data from MCRI’s GenV project, the world’s largest study of families with babies, to investigate how neighbourhood environments affect child and adolescent health and identify interventions that could help.

Dr Elena Tucker received funding to better understand premature ovarian insufficiency (POI), which is a leading form of female infertility in women under 40, with no comprehensive diagnostic test.

Grants at a glance

Our donors

With life-changing support from our donors, we have made a positive impact around the world this year.

Ainsworth 4 Foundation

Antoinette Albert

The Activist Foundation

Amelia Eliza Holland Trust

Kenneth Allardice and Julie Roy

Alpha-1 Foundation

The Andrews Family Trust Charitable Fund

Richard Appel

APS Foundation

Australian Communities Foundation

Australian Society of Plastic Surgeons

Ange and Sam Baillieu

Asthma Australia

The Australian Pain Society

Balcon Group

Jillian and Stuart Bales

Bob and Yas Baravarian

Maureen Barden

Ariane and Angus Barker

Anne Barton and Dr David Barton

Norma Beaconsfield

Beck Family Foundation

Beige Technologies Pty Ltd

Bradley and Colleen Bell

Janet Bell

The Bella Tripp Foundation

Benevity

Bendigo Bank Balnarring

Danielle Besen

Beyond Blue

John Bickerstaff

Big W

Miffany and James Blythe

Board of Works Pty Ltd

Yeon Joo and Peter Brack

Brain & Behavior Research Foundation

Breakthrough T1D

Brian M. Davis Charitable Foundation

David and Elizabeth Briskin

Garry and Sophie Bromham

William Broughton and Jessica Curtis

The Honourable Dame Quentin Bryce

AD CVO

Rebecca and Tom Bull

BUPA Australia

ByBoet Foundation

Emma Cahill and Nathan Goonan

The Calvert-Jones Family

The Calvert-Jones Foundation

Cameron Foundation

Cancer Council Victoria

Carey Baptist Grammar School

Suzi and Barry Carp

The family of Suzi and Barry Carp

Steven Casper and Ilana Wald

The family of George and Freda Castan

Castello Pizza and Gelato

Cerebral Palsy Alliance

Cerebral Palsy Support Network

Channel Foundation

Chau Chak Wing Foundation

Children’s Tumour Foundation of Australia

Sandra Clark

Ronda and Ernest Clarke

Jesse Cohen

Trevor Cohen AM and Heather Cohen

Associate Professor John Collins AM and Mandy Collins

Collier Charitable Fund

Consolidated Press Holdings

The Cornish Foundation

Rod Costigan

Sophie and Simon Crowe

N. Crux and L. Healey

The Cuming Bequest

Da Gama Pinto Foundation

Georgia Danos and Julian Dunne

Evelyn Danos and Tom Danos OAM

Matthew and Georgia Danos

Datt Family Foundation

D.D.K. Holdings

The Dash Family

Gerry Davies and Jessica Mariani

Simon Davies and Zara Mahoney

Dr Charles Day and Elise Everest

Zoe and Olivier De Givenchy

David and Veronica De La Coeur

Deaf Children Australia

Deafness Forum Australia

Devilee’s Air Conditioning and Refrigeration

DHB Foundation

Des and Margaret Dodds

Dr Annette Domanti

Julie and James Douglas

Justin and Helena Dowers

Dr Bill Downey

Carla and Gerard Du Manoir

The Eirene Lucas Foundation

Eisen Family Private Fund

Equity-One Mortgage Fund

Equity Trustees

Erdi Foundation

Estate of Annie Dick Williams

Estate of Lino Corsano

Estate of Valerie Rae Carr

Eureka Benevolent Foundation

Joan Fell

Dhevinne Fernando

Fight Cancer Foundation

Flicker of Hope Foundation

Fondation Botnar

Michael Forsdick

Foundation for Prader Willi

The Fox Family Foundation

Friedreich’s Ataxia Research Alliance

Friendly Senior Citizens Group

Diana Frew and Dr John Frew

Gandur Family Foundation

Judy and Ross Gardner

Gates Foundation

John and Gaye Gaylard

Andrew and Bev Gelbart

Sonia Gilderdale

The Gillin Boys Foundation

GlaxoSmithKline

Good2Give

Melissa Goode and Christopher Archibald

Gourlay Charitable Trust

Ashley and Christopher Graham

Gras Foundation Trust

Gregory and EJ Milken Foundation

Gurner Foundation Trust

Handbury Foundation

Harold and Cora Brennen

Benevolent Trust

HCF Research Foundation

Dr Sophia Healey and Mark Healey

Heart Foundation

Hearts and Minds Investments

Geoffrey Heeley

Helen and Michael Gannon Trust

Raymond Hemphill

Amanda and Eric Henderson

Heather Henderson

Patrick and Susan Houlihan

Tim Hovey

Human Frontier Sciences Program

The Ian Potter Foundation

In celebration of Professor David Danks

In celebration of the marriage of Rupert Murdoch and Elena Zhukova

In memory of Alexandra Thoms

In memory of Brianna Kate Smith

In memory of Grant Smith

In memory of Ken Ong OAM

In support of Associate Professor

Hamish Graham

The Isabel & John Gilbertson

Charitable Trust

Ivy’s Ripple Effect

J Hines Property

The Jack Brockhoff Foundation

Margaret and Peter James

Jayco Corporation

Bruce Jeanes

Johnstone Family Foundation

George and Rose Kailis

Vas Katos and Nicole Georgelos

KdVS Foundation

Lisa Kelly and Mark McInnes

Ian Kennedy AM and Dr Sandra Hacker AO

Kim Kerr

The Kids’ Cancer Project

KIF1A Australia Foundation

Kindilan Foundation

Professor Denis King OAM

Brian Kinnish

Clark and Sara Kirby

Tahli Koch and Damien Moss

Gerard La Fontaine

The Lachlan and Sarah Murdoch Foundation

Tamara and Wayne Lasky

Latitude Financial Services

Yvonne Le Fort

Leducq Foundation

Dr George Lefroy AM and Joan Lefroy AM

Marj Lefroy and Tim Wilkinson

Fran Lefroy and David Jenkins

Nichola Lefroy and Sam Riggall

Maddie Leggo

Peter Lemon

L.E.W. Carty Charitable Trust

Weiwei Li

Lynette Liew

Linda McNaughton Family Trust

Brian Little

Live for Lily Foundation

Logan Family Foundation

Ben Macpherson

Macquarie Group Foundation

Joel Mahemoff and Dr Neda Haghighi

The Marian & E.H. Flack Trust

Christine Marty

Judy Matear

Susan McCarthy

Christine and Denis McConnell

Georgia and Craig McElvaney

Doug McIver

Laura and Gillon McLachlan

Elizabeth McLaurin

McMeckan Family Foundation

McKenzie Family

McNally Family Foundation

The McPhee Charitable Fund

Naomi Milgrom AC and John Kaldor AO

Mito Foundation

Kate and Dean Mohr

My Room Children’s Cancer Charity

The Myer Foundation

Cecilia Myers

Sajee and Dilan Nanayakkara

National Blood Authority

Dr Philip Myles Neri

The Next Generation

Norman Beischer Medical Research Foundation

Novo Nordisk Foundation

Oesophageal Atresia Research Association

ONE in 5000 Foundation

Alexander Ong

James Orloff and Kirsten Macleod

The Orloff Family Charitable Trust

OrthoPediatrics Australia

Rowly and Judy Paterson

Paul G. Allen Family Foundation

The Paul Ramsay Foundation

Peter Griffin and Terry Swann Foundation

Pfizer Australia

PKD Australia

Lady Primrose Potter AC

The Pratt Foundation

PURA Foundation Australia

Adrian and Michael Quilter

The Ray and Margaret Wilson Foundation

Rebecca L Cooper Medical Research Foundation

The Record Run Chase

Renzella Foundation

Rett Syndrome Association of Australia

Jenny Rizk and Tom Nicholls

Judy Roach, Richard Roach and Sally Gough

The Robert Connor Dawes Foundation

Judith Robinson

Roma Social Club

Royal Australian College of Physicians

The Royal Children’s Hospital Foundation

Pearl Rozenberg

RUN DIPG

Safe Care Victoria

SALT Catalyst

The Samuel Nissen Charitable Foundation

Sanofi – Regeneron

Pam Sargood

The Scobie & Claire Mackinnon Trust

Greg Searle

Serp Hills Foundation

Dr Michael Shearer and Rita Shearer

Leon Skaliotis

Andrew and Heather Slutzkin

Colin and Jan Smith

Speech Pathology Australia

Patricia Spencer

Neil Spitzer

Stadium Stomp MCG 2024

Stafford Fox Medical Research Foundation

Stan Perron Charitable Foundation

Grant and Terri Stephenson

Rosemary Stipanov

The Stocks Family Foundation

Suhara Foundation

The Sunraysia Foundation

Supernormal

The Sylvia and Charles Viertel

Charitable Foundation

Robin Syme

Takeda Pharmaceuticals

Angie and Vidoja Tasic – Will’s Wish

Polly Taylor

Thelma and Paul Constantinou Foundation

Anita Thomas

Michelle and David Thompson

Gordon and Bronwyn Thoms

The Thoracic Society of Australia And New Zealand

Thrasher Research Fund

Tim Fairfax Family Foundation

Rebecca and Steven Tomsic Tour de Cure

Tribeca Investment Partners

UCB Australia

The Uehiro Foundation on Ethics and Education

Lyn Unsworth

Kate Vale and Justin Vale

Tony and Judy Van Bergen

Vanguard Investments Australia

Sarah Vaughan veski

Victorian Comprehensive Cancer Centre Alliance

Village Roadshow Group

Kelvin Wearn

Wellcome Trust

Philip Weston, in memory of Julie Weston

Shemara Wikramanayake

Brooks Wilson

John Wilson and Sue Robinson

Wilson Asset Management

International

World Cancer Research Fund

Mandy and Edward Yencken

Youth Action for Allergy

The Yugilbar Foundation

Zagora Foundation represented by the Clifford and Widdup families

Roz Zalewski OAM and Jeremy Ruskin KC

ZOLL Foundation

Anonymous (27)

The year in review

Murdoch Children’s Research Institute financials for 2024

$117.9m

RESEARCH AND GOVERNMENT GRANTS

$28.5m

$270.8m TOTAL REVENUE

DONATIONS, FUNDRAISING AND BEQUESTS

$65.7m

CONTRACT RESEARCH, CLINICAL TRIALS AND OTHERS

$58.7m

VCGS

Statement of profit or loss and other comprehensive income for the year ended 31 December 2024

Statement of cash flows

For the year ended 31 December 2024

Statement of financial position

As at 31 December 2024

To view the full set of Murdoch Children’s accounts, visit the ACNC (Australian Charities and Not-for-profits Commission) at acnc.gov.au/charity/charities

2024 Board of Directors

Rajeev Natarajan

Dominic Stevens

Simon Rothery

Bernadette McDonald (retired September ’24)

Sarah Murdoch MCRI Co-Chair

Professor Jane Gunn

Patrick Houlihan MCRI Chair

Steven Casper

The Hon Nicola Roxon

Professor Kathryn North AC MCRI Director, VCGS Board Member

Miffany Blythe

Other Boards and Committees

Audit, Risk and Finance Committee

Paul Rayner (Chair)

Andrew Wilson

Elise Elliot

David Gillespie

The Hon Nicola Roxon (joined June ’24)

Stuart Boxer (retired October ’24)

Investment Committee

Paul Rayner

Dominic Stevens (Chair) (joined June ’24)

Adrian Redlich

Craig Dandurand

Simon Rothery (Chair) (retired May ’24)

Ariane Barker (retired May ’24)

Nominations and Remuneration Committee

Pat Houlihan (Chair)

Sarah Murdoch

Andrew Wilson

Simon Rothery

Professor Kathryn North AC

Innovation Committee

Andrew Wilson (Chair)

Dr Brandon Carp

Steven Casper

Global Advisory Board

Sarah Murdoch (Chair)

Trent Blacket

Miffany Blythe

David Calvert-Jones

Suzi Carp AO

Sue Collyns

Sarah Harden

Tristen Langley

Chelsey Martin

Kate Mohr

Katie O’Reilly

Erica Packer

Nicholas Stone

Lauren Thurin

Global Ambassadors

Suzi Carp AO

Sarah Murdoch

Development Board

Miffany Blythe (Chair)

Trent Blacket

William Broughton (joined February ’24)

Georgia Danos

Tanya Hamersfeld

Zara Hines

Vas Katos

Clark Kirby

Tahli Koch

Tamara Lasky

Peter Mastos (retired October ’24)

Kaajal Prasad

Council of Ambassadors

The Honourable

Dame Quentin Bryce AD CVO

Janet Calvert-Jones AO

Paula Fox AO

Jean Miller

Professor Kathryn North AC

Lady Primrose Potter AC

Jeanne Pratt AC

Frances Underwood

Marketing Council

Ian Rowden (Chair)

Joanne Smith

Martin Ward

Victorian Clinical Genetics

Services Board

Dr Brandon Carp (Chair)

David Gillespie

Professor Kathryn North AC

Professor Andrew Sinclair

Andrew Wilson

Dr Brandon Carp

Paul Rayner

We believe that for every question there’s an answer.

For every child’s illness there must be a cure.

For every obstacle there must be a way around.

What inspires us is asking the big questions – Why is it so? Why does it happen? How can we fix it?

What excites us is tackling the big issues affecting children’s health.

Children are at our heart, in our blood, and in our bones.

We believe every child deserves a healthy start to life.

And a happy and prosperous community needs healthy children.

We believe in the power of curiosity, cleverness and cuttingedge research.

We are excited by discovery and new knowledge to make a difference.

The future is purchased by the present, we can shape the future, we can change the world.

So every child can have a childhood. So every child can grow to reach their full potential.

Children are at the heart of everything we do.

Scan here to access a digital copy of the annual report on your device.

We are grateful for News Corp Australia’s support in helping to share MCRI’s story with a wide audience, increasing our national and international awareness and enabling even greater research impact.