Rare Diseases

2025 | A promotional supplement distributed on behalf of Mediaplanet, which takes sole responsibility for its content

“95% of rare conditions have no approved treatment, and those that do exist are often expensive and hard to access.”

Debra

Bellon, Strategic Engagement Manager, Rare Diseases International Page 02

“Rare diseases sit at the crossroads of the challenges that national and regional competitiveness strategies aim to solve.”

Rosa Castro, Public Affairs Director, EURORDIS-Rare Diseases Europe Page 06

Improving equity for rare diseases through global policy

People living with rare diseases face challenges accessing diagnosis, treatment and care. A new World Health Assembly (WHA) resolution offers hope — but action must follow.

“This is our reality — a constant roller coaster ride.” That’s how Ida Fransson and Mats Jansson of Sweden describe the experience of searching for answers for their two children, Edwin and Ellie, who live with a condition that is still undiagnosed, even after extensive genetic testing.

Ongoing barriers for people living with a rare disease

“Without a diagnosis, you’re pingponged around the system, searching for what might be wrong with you or your child,” echoes UK-based Kirsten Johnson, Chair of Rare Diseases International (RDI).

It takes an average of six years for a rare condition to be diagnosed. Even after diagnosis, the 350 million Persons Living with a Rare Disease (PLWRD) around the world face significant challenges: 95% of rare conditions have no approved treatment, and those that do exist are often expensive and hard to access.1

Chantelle Hall of South Africa knows the challenges of accessing treatment firsthand. Her son Freddie lives with achondroplasia, a form of dwarfism. A new treatment shows promise in improving bone growth, but only for those who can access it. “While one child gets treatment early, another just miles away might never get the chance,” she says. “Achondroplasia doesn’t define someone, but access to care can define their future.”

An important milestone: the WHA Resolution on Rare Diseases

In May, the World Health Assembly adopted a landmark Resolution on

Rare Diseases, sponsored by Egypt and Spain and co-sponsored by 39 other countries: a major step toward equity for PLWRD. It recognises rare conditions as a global health priority and calls on the WHO to create a 10-year Global Action Plan on Rare Diseases. It also urges Member States to improve the diagnosis, treatment, care and awareness of rare conditions.

What comes next?

The resolution is just the beginning. To create real impact, governments must provide sufficient, sustainable resources for rare conditions and collaborate with communities, nongovernmental organisations and other relevant stakeholders.

As the global alliance of rare disease organisations, RDI plays an important role in ensuring that PLWRD around the world are actively engaged in implementing the resolution. RDI supports PLWRD with the tools and resources they need to engage with their national governments and the WHO while amplifying their voices on the global stage.

The resolution must be more than a global framework imposed from above. Real progress requires a collective, ground-up effort to build inclusive health systems that recognise and serve everyone, everywhere — no matter how rare their condition.

Reference:

Around the world, over 250 million people, mostly babies and children, live with undiagnosed rare genetic conditions — most of them in lowresource settings.

~Sharon F. Terry, CEO, Genetic Alliance (Page 05)

Truth and trust go hand in hand in rare disease information

Pharma companies must deliver rare disease education and awareness information accurately and authentically. Otherwise, it risks being more harmful, rather than helpful.

Alchemist Consulting helps pharmaceutical companies deliver compliant disease education, support and awareness information to rare disease patients, carers and the public.

Authentic portrayal of rare disease

“Pharma companies often produce information about a disease they are involved with,” explains Jameson. “We work with them to check that what they are saying is technically accurate and in line with current medical thinking,

relevant, unbiased, accessible, easy to understand and useful. We try to put ourselves in the shoes of the patient and ask: Does it reflect their real experience?” Authentic patient information about complex rare diseases may even support appropriate, timely management.

Respectful representation empowers patients

A recent survey from pharma manufacturer Chiesi UK and patient organisation Metabolic Support UK, called True Faces of Rare, asked rare disease

patients what they want to see from educational and awareness materials. They wanted communication to include authentic imagery that provides a careful and respectful portrayal of their condition, improves public understanding, counteracts stigma and prevents stereotyping.

“That message came through loud and clear,” says Jameson. “Using authentic imagery is a simple way to help rare disease patients feel empowered and supported. I think the industry is improving how it represents patients, but there is still a way to go in rare diseases. There’s a societal responsibility to help improve the lives of people living with rare diseases, so we need to play our part. At Alchemist Consulting, we’ve taken learnings from the survey on board and are making sure they are implemented.”

For instance, if a public or patient awareness poster campaign about a rare disease features stock images of people who, in reality, don’t have that disease, this is not helpful to greater understanding. If images are chosen insensitively, there’s a risk that patients could be stereotyped and stigmatised.

Although their conditions are rare, it’s important that patients do not feel alone and have support. We are all learning how to communicate better with the rare disease voice at the centre of the conversation.

Image provided by Alchemist Consulting

Building the evidence for genomics supporting newborn screening

A study led by Genomics England in partnership with NHS England is looking to understand whether we can improve the ability to diagnose and treat genetic conditions from birth.

Following the Generation Study’s launch in 2024, we’re seeing real impact for families living with rare conditions.

Earlier diagnoses and treatment

The Generation Study is looking to improve how we screen for rare genetic conditions for better outcomes. Currently live in over 30 hospitals, it’s using whole genome sequencing to look for over 200 rare conditions in 100,000 newborns.

Children with a condition are diagnosed sooner than they typically would. The average time to receive a rare condition diagnosis is around five years.1 For those in the Generation Study, it’s a matter of weeks or months. These children are accessing life-changing treatment that can profoundly shape their development and future.

Supporting broader research

The study will help drive better understanding of rare conditions, genetics and our health, as well as open avenues to developing new treatments by supporting broader research. Approved researchers will be able to conduct approved healthcare research using the consented, de-identified data collected. Researchers will not know the babies’ identities. Our ambition is to give everyone the chance to benefit from genomic medicine — not just those currently able to receive a diagnosis or treatment.

Families who need treatment can receive it equitably and from the right specialists.

Other countries also run studies exploring newborn genomic sequencing, but the Generation Study is unique in how it’s been embedded within the NHS. Families who need treatment can receive it equitably and from the right specialists. We’re encouraged by feedback from participating families, and results are making an impact.

The role of rare disease education in the diagnostic odyssey

For a child with a rare disease, a doctor’s continuing education can end a years-long diagnostic odyssey and unlock access to vital care.

Providing data and evidence for a preventative shift

We have a lot to learn about how genome sequencing in newborns might work, and we continue to ensure this is carried out safely and transparently. When complete, the study will generate valuable evidence about offering whole genome sequencing as part of screening for rare genetic conditions at birth. The study has enormous value for participating families and in supporting a shift towards preventative healthcare. We’re excited to continue building on what we’ve learned so far to realise this potential.

A harmful adage in diagnosis

In medical school, doctors are taught, ‘When you hear hoofbeats, think horses, not zebras,’ guiding them to focus on diagnosing common conditions and to discard the possibility of a rare condition. Yet, approximately 5% of the global population does have a rare condition, which, collectively, isn’t rare.1 These patients experience an average diagnostic delay of four to five years, and depending on the condition, sometimes over 10 years.

Continuous learning for physicians

Most rare diseases are genetic and ~70% present in paediatrics, but paediatricians are regularly missing these cases.2 Unfortunately, very little time, if any, is dedicated to learning about rare diseases in medical school.

Thus, for doctors to unlearn that potentially harmful adage about horses and zebras, they must learn about rare diseases by participating in continuing medical education throughout their careers.

‘When should I re-investigate a possible misdiagnosis?’ ‘What signs should make me think it might be a rare condition?’ These are the questions continuing medical education strives to answer.

Does rare disease education work?

Medscape Education features the largest collection of online accredited continuing medical education programmes in rare disease, covering over 100 different rare conditions, as well as rare disease foundations, patient voices and case challenges.

To evaluate the impact of education on real-world practice, we asked whether paediatricians who participated in rare disease education versus those who didn’t were more likely to order genetic tests (assessed via 30 relevant procedural codes). Analysing recent Medscape internal data from 24 programmes for paediatricians, we found that among paediatricians who ordered genetic tests, those who participated in rare disease education (n = 100) ordered them significantly more commonly than those who didn’t participate in the education (n = 341).

Those who participated ordered genetic tests for an average of 9.63 patients over a 2-year period versus for an average of 5.70 patients among those who didn’t participate, representing 69% more patients per educated paediatrician who received a genetic test. This has major implications for shortening the rare disease diagnostic delay in paediatric practice. If patients can get a diagnosis as early as possible, preferably as a child, as a result of better-informed doctors, we can end the frustrating diagnostic odyssey and enable earlier access to appropriate care.

References

1.Nguengang Wakap S, Lambert DM, Olry A, et al.

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173. http://doi.org/10.1038/s41431-0190508-0

2.Rohani-Montez SC, Bomberger J, Zhang C, et al. Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genet Med Open. 2023 Apr 17;1(1):100808. doi: 10.1016/j. gimo.2023.100808

Reference: 1. Jefferies, N. 2024. NHS England. Diagnostic odyssey in rare disease.

WRITTEN BY Amanda Pichini Clinical Director, Genomics England

WRITTEN BY

S. Christy RohaniMontez, PHD Senior Director, Clinical Strategy, Rare Disease Education Lead, Medscape

BY Sharon F. Terry CEO, Genetic Alliance

Diagnosing the world’s forgotten children through genomic testing

Denying children a diagnosis because of where they live is unconscionable. Genomic testing must be a global right to tackle this issue.

Reality series star Andy Ryan reveals rare KTWS diagnosis

Around the world, over 250 million people, mostly babies and children, live with undiagnosed rare genetic conditions — most of them in low-resource settings.1 Their suffering remains unseen, and their lives are often cut short, not only because access to diagnosis depends on geography and income, but also because treatments for these conditions have not been made a global priority. This is not a failure of science or medicine; it is a moral failure.

Every child, regardless of where they are born, has a right to a diagnosis.

In clinics where iHope operates, up to 60% of children tested receive a diagnosis. 2 At the very least, this stops the psychological suffering of dealing with a disease without a name or cause. In some cases, it leads to simple treatments with incredible impact. Sometimes, the solution is as simple as removing lactose from a child’s diet or vitamin supplements. iHope proves that where infrastructure is lacking, partners with tenacity can foster innovation.

Genomic diagnosis for every child, everywhere In a world where wealth and power are concentrated in the hands of a few, it is often the smallest, youngest and most marginalised who are ignored. This isn’t just about science; it’s about justice. Every child, regardless of where they are born, has a right to a diagnosis.

Available solutions for rare disease diagnosis

The technology to diagnose these children is accessible and becoming more affordable. For example, Genetic Alliance’s iHope programme offers free genome and exome sequencing to children in underserved communities, making a service once considered a privilege a fundamental right. With support from foundations and industry, iHope helps clinics in countries like Ghana, Peru and Mexico provide answers that can save lives.

Ignoring this isn’t just a missed opportunity; it’s a failure of global conscience. We should view genomic diagnosis as a duty, not charity. Let’s stop making excuses and confront the challenges without seeking credit or recognition. Let’s consider this a public health crisis and use the tools we have to save children.

References:

1. Genetic Alliance UK, geneticalliance.org.uk/ campaigns-and-research/facts-and-figures/, Accessed Sept 2025.

2. Malhotra, Alka et al. Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease. HGG advances vol. 6,3 (2025): 100430. doi:10.1016/j.xhgg.2025.100430.

Andy Ryan of The Great British Bake Off shares his experience of living with Klippel-Trenaunay-Weber Syndrome (KTWS), a rare condition affecting around 1 in 100,000 people in the UK.1

Andy reached out to Beacon for Rare Diseases to share his journey, which highlights just how vital community is. KTWS currently has no UK-based support group, which is sadly the case for 50% of the 7,000+ rare conditions. Without the support of a designated KTWS group, Andy has been left isolated, misunderstood and without a trusted source to turn to — a reality many in the rare community face.

Impact of Klippel-Trenaunay-Weber Syndrome

Andy states: “I was born with this condition. Every day can feel like a battle. Often, I’ll be in situations where others don’t understand the severity. I can’t simply push through the pain.” The emotional impact of living with KTWS has been just as challenging as the physical aspect. Rare disease charity Rareminds found that 85% of people who have or care for someone with a rare condition experience a negative impact on their mental health.

“In my teenage years, I was bullied because of my appearance, and as much as I tried to ignore it, those experiences affected my self-esteem,” Andy adds. “I still often wear jeans at the beach to cover my leg because I feel ashamed of the way it looks. It can be sad when I think about how much I’ve hidden because I feared being judged. I now want to change that, not just for myself, but for others who may feel the same way.”

Rare community support and awareness

Andy is using his newfound platform to raise awareness. “I want my story to resonate, showing that having a disability doesn’t mean you can’t pursue your dreams,” he says. I’ve seen how powerful a community can be. I’d like to demonstrate that with resilience and support, it is possible to lead a fulfilling life despite chronic conditions.”

Beacon is working to ensure no one walks their rare journey alone by connecting advocates like Andy through community-building events, mentoring, research and sharing lived experiences. By sharing and combining the rare community’s skills, we are creating an unstoppable movement that brings real change to those living with a rare disease.

References

Naganathan S T P. 2023. Klippel-Trenaunay-Weber

WRITTEN

WRITTEN BY Niamh Antrobus

Senior Communications Officer at Beacon for Rare Diseases on behalf of Andy Ryan

Connecting, cycling and changing children’s lives

Thousands of children across the UK are living with rare and devastating diseases that have no cures. Ten-year-old Digby is one of these children.

Digby is living with Duchenne muscular dystrophy, a rare genetic condition causing muscles to weaken over time. Digby’s journey with Duchenne began when he was aged two and his mum, Lisa, noticed he wasn’t reaching key developmental milestones.

Journey for children with Duchenne By 10 to 14 years of age, boys with Duchenne lose the ability to walk and require a wheelchair full time. Sadly, this disease is fatal, and although some treatments are available to help slow its progression, they do not benefit all affected children. “The feeling that our son is on ‘borrowed time’ is heartbreaking,” says Lisa.

Digby receives a weekly treatment for Duchenne, which Lisa believes may be helping to slow down his decline. “Whilst we take each day at a time, we’re incredibly grateful that he’s still got his mobility at this point and leads as normal a life as possible — but this can change overnight,” says Lisa.

Partnerships powering research

More research is urgently needed to help children like Digby. Action Medical Research is funding work to investigate whether combining gene-based therapies with existing medications could improve their effectiveness.

This type of research to help children like Digby is only possible with support. Through their programme of bike rides, Action Medical Research have built a community of active givers, including biotech professionals.

Working in partnership with EBD Group, the charity is able to benefit from key life science events, like BIO-Europe, where initiatives such as BiotechBikers help power research through connections. Thanks to these connections, Action Medical Research can continue its fight against rare diseases and help change the lives of children like Digby’s.

Strength through support

Despite the challenges, Digby’s story is one of resilience and positivity. Through family support, groundbreaking research and a determined spirit, Digby continues to light up the lives of those around him.

The vision for a competitive Europe rare diseases offer

Rare diseases offer Europe a strategic edge — fuelling biotech, genomics and AI innovation. Learn how a new WHO resolution could shape future healthcare systems and competitiveness.

Across Europe, rare diseases are being recognised as more than a quest for social justice. They are emerging as a strategic opportunity — a lever for scientific excellence, smart regulation and patient-centred innovation. That shift is real, and it is encouraging — but here’s what should excite us even more: Europe has only begun to tap this potential.

Rare diseases are also a testing ground for AIenabled tools and realworld data to accelerate diagnosis, deepen research and inform smarter regulation.

Rare diseases as a strategic priority

WRITTEN BY Sarah

Moss

Rare diseases sit at the crossroads of the challenges that national and regional competitiveness strategies aim to solve — and the strengths they seek to build. From the EU’s Life Sciences Strategy and Biotech Act to the UK’s Rare Diseases Action Plan, recent initiatives have increasingly recognised rare diseases as a sector where meaningful progress meets scientific opportunity.

System gaps in rare disease

The case is clear. An overwhelming 95% of rare diseases still lack an approved treatment, yet

more than 70% have a genetic origin.1 This places rare diseases at the forefront of breakthroughs in genomics, newborn screening and advanced therapies. Rare diseases are also a testing ground for AI-enabled tools and real-world data to accelerate diagnosis, deepen research and inform smarter regulation.

However, leadership in rare diseases demands more than technological promise. It requires systems that connect innovation to access alongside policies that reward complexity without leaving patients behind. Rare diseases reveal where those systems falter — and how to make them stronger.

Europe poised for action

The recent adoption of the first-ever WHO Resolution on Rare Diseases opens a new window for pan-European action. At the 13th European Conference on Rare Diseases and Orphan Products (ECRD), from 2–4 June 2026 in Prague and online, EURORDIS will launch a multi-stakeholder dialogue on a roadmap for implementing the Resolution across the WHO European Region. Europe has the tools. It has the ambition. Now is the time to deliver.

Reference: 1. The landscape for rare diseases in 2024. The Lancet Global Health, Volume 12, Issue 3, e341.

WRITTEN BY Rosa Castro Public Affairs Director, EURORDIS-Rare Diseases Europe

Redefining the rare disease launch to reach every patient

Dr Saiqa Khan, Head of Growth, Global Marketing, at Avalere Health, explains why success in rare disease can no longer be measured by strength of data or time to diagnosis. It must be measured in the number of lives transformed.

Rare diseases represent one of healthcare’s most complex frontiers. The umbrella term rare disease covers extraordinary diversity: some shorten life; others primarily affect quality of life; many bring complex social and emotional challenges. Each is unique, demanding its own tailored pathway.

As a strategic partner for the healthcare industry with one mission, to reach every patient possible, Avalere Health is redefining what a rare disease launch strategy means today.

Decades of progress and a future of possibilities

The rare space has seen a remarkable transformation, from limited understanding to unprecedented innovation, with competitive landscapes emerging. Yet, 95% of rare diseases still have no treatment.1

“The challenge is no longer just scientific innovation,” says Dr Khan. “Equally, it’s about ensuring new therapies, once launched, reach every patient who needs them.” Far from discouraging, this is a powerful call for continued collaboration to empower healthcare professionals, patients and the industry to be the pioneers of positive change.

Every rare disease launch must be unique If no two rare diseases are the same, then no launch can follow a playbook. Instead, launches must be distinctly grounded in evidence, insight and human connection. “Launching a rare disease therapy is not a single moment,”

explains Dr Khan. “It’s a holistic continuum, where success depends on engaging every person, early, and with uncompromising authenticity.”

Avalere Health takes an integrated approach, uniting its advisory, medical and marketing capabilities to create a comprehensive picture of the landscape, including the patient experience. “Here, more than ever, patients are not just recipients of care,” says Dr Khan. “They are experts, advocates and partners in research. Their perspectives add immeasurable value, and we must engage very early on.”

Reaching every patient possible

“Every new therapy is a milestone worth celebrating — a step closer to transforming lives across more than 7,000 known conditions,” says Dr Khan. Leveraging its unique ‘SenseMaking’ approach, the company connects silos across society, systems and science, uncovering missed opportunities to create bold, effective models of engagement grounded in the lived experiences of patients.

Dr Khan explains: “The impact is beyond commercial success. It’s putting therapies in the hands of people who might otherwise remain unseen. By launching with integrity and purpose, we can truly transform people’s lives.”

Reference:

The Lancet Global Health, 2024. The landscape for rare diseases in 2024. The Lancet Global Health, Volume 12, Issue 3, e341.

INTERVIEW WITH

Saiqa Khan Head of Growth, Marketing, Avalere Health

WRITTEN BY

Bethany Cooper