Alberta Children's Hospital Research Institute Magazine

Spotlight on Research 2 01 3 Pu b l i cat i o n

RESEARCH INSTITUTE FOR CHILD AND MATERNAL HEALTH

Le t ter f rom t he Direc t or

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Welcome to our Institute’s magazine.

ONLIN E research4kids.ucalgary.ca

AC H R I PA R TN E R S

F O U N DAT I O N

C R E D IT S Ed i t o r

Laura Herperger Communications Coordinator Contac t Information Email

laherper @ ucalgary.ca

Office

403.210.3951

Cell

403.919.3816

Alberta Children’s Hospital Research Institute RM 287, Second floor HMRB 3330 Hospital Drive NW Calgary, AB T2N 4N1 Cover Photo

Bruce Perrault On the cover

Matthew Newton, Grade 6, University Elementary School Thank you

Elboya Elementary and Junior High for student art work: Tanya Isyp, Hana Gair and Annah Saleem DesiGN

COMBINE Design & Communications

The Alberta Children’s Hospital Research Institute for Child and Maternal Health was established three short years ago. Since its creation, the Institute has grown in many ways to be a pillar for child health research in Alberta.

The Institute provides a focus for the research of many leading scientists who have come to Calgary to do research in the fields of infant epilepsy, childhood cancer, vaccine development, gastrointestinal conditions, brain and fetal development and maternal depression – to name a few.

The Institute is committed to making scientific breakthroughs a reality.

This commitment led to the establishment of a genomic sequencing facility. This facility allows patients’ genetic information to be understood in ways that will improve their chances of early diagnosis, treatment and recovery.

The Institute has also established a pediatric brain injury research program equipped with electrophysiology microscopes and a 3T pediatric MRI to carry out research. The sophisticated imaging scanner, which is in use at the Alberta Children’s Hospital, is the only one of its kind in western Canada.

ACHRI’s research touches on many areas – the causes of childhood obesity, improving the

B r e n t sc ot t, MD.

emergency care of children and preventing childhood injury.

Our home is the research labs at the Foothills Campus, University of Calgary, and in the clinical research facilities at the university and the Alberta Children’s Hospital.

Our success reflects the hard work and commitment of many people. I am deeply grateful to the many generous donors who contribute to the work here at the Institute. I look forward to an exciting upcoming year and invite you to learn more about the Institute on our website.

Brent Scott Husky Energy Chair in Child and Maternal Health Executive Director, Alberta Children’s Hospital Research Institute for Child and Maternal Health

Alberta Children’s Hospital Research Institute

Ep il e p s y

Help for babies with seizures ammy Mayer recalls the day last October when her five-month-old son, Clinton, had his first seizure.

“It was a Friday, he was playing, and suddenly his arms stretched outward and he lost focus in his eyes,” she remembers.

Mayer knew immediately that something wasn’t right. Infants make so many odd faces, but this was different.

“I knew right away this was not my son’s normal actions,” she says. ”He was not happy, so we took him to see a doctor.”

After several medical appointments, the Mayer family was sent to the Alberta Children’s Hospital to visit Dr. Morris Scantlebury.

Scantlebury is a pediatric neurologist and a researcher at the Alberta Children’s Hospital Research Institute. He works with children who have infantile spasms, or West Syndrome−a rare type of epilepsy that is challenging to treat.

“I think it is my toughest day when I have to tell a family this diagnosis,” Scantlebury says.

“I just felt like I was losing him”, says Mayer about her son, “It was the scariest thing that we’ve ever been through.”

West Syndrome affects approximately two in every 10,000 children and the cause is complex and thought to be influenced by multiple factors.

Medical practitioners usually first observe infantile spasms at about three to six months. Infants are referred for EEG testing and a MRI to confirm the condition and then require medical treat- ment to prevent potential cognitive impairment and regression.

Baby Clinton was prescribed intense ACTH hormone injections for a period of six weeks.

The injections can reduce the spasms and improve the condition. The treatment was successful for Clinton. He is now active again−smiling and playing. But not all children are as lucky. As many as one-third of children with this condition are unresponsive to treatment.

“The fact that there are not many options for treatment is frustrating,” says Scantlebury.

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C l in t & Ta mm y M ay e r , a nd T he ir 7 m o n t h o l d so n, C l in to n

“This condition has been chronicled in medical literature for 150 years, and yet science has not moved much further ahead.”

Knowing the challenges presented by infantile spasms, Scantlebury is hoping his research will lead to more effective treatments.

In 2006, Scantlebury developed one of the first successful models for studying infantile spasms while working at the Albert Einstein College of Medicine in New York. And now Scantlebury is ready to use those models in his lab at the Alberta Children’s Hospital Research Institute.

That research gives hope to families.

“All I know is that one day I had a beautiful, healthy baby, and the next, all that changed,” Mayer says.

The Mayer family will continue to take baby Clinton into the Alberta Children’s Hospital to monitor his progress. For now, they are cautiously optimistic about the ongoing treatments for their son.

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I just felt like I was losing him.

It was the scariest thing that we’ve ever been through.

Morris Scantlebury, MD

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Simul at ion T r a ining

KidSIM Dream Comes True

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Grant graduated from medical school at the University of Calgary and continued his career in pediatrics and pediatric emergency medicine at the Children’s Hospital of Eastern Ontario. In 2005, he heard that the Alberta Children’s Hospital was interested in developing a simulation-based training program. It was enough for him to pack his bags and head back to his home town.

On arriving, Grant assembled a team of biomedical technicians, respiratory therapists, nurses and doctors to start putting into place the necessary blocks.

It started with just one high- tech mannequin and a small teaching room in the basement of the former Alberta Children’s Hospital. In that first year, only a few hundred people were trained. The program now has 75 educators and teaches 3– K idSIM l a b w i t h t wo he l pe rs: Je nn y C h at f ie l d, Edu cato r & Da n Dupe r r a n, T ec hni ca l C o nsulta n t thousand clinicians a year. multi-million dollar Pediatric Simulation “We are definitely improving the health of children Centre is taking shape on the fourth with better trained and more adequately prepared floor of the Alberta Children’s Hospital. clinicians,” Grant says.

Watching the physical transformation from “I can give several concrete examples of construction site to a high tech centre is Dr. Vincent situations where something we practiced on in Grant, medical director of the KidSIM program. simulation later ended up presenting to the emer“While it doesn’t look like much right now, it is gency with exactly the same condition as in the going to be an amazing space in a few months,” simulation. Our emergency teams tell us that they Grant says. communicated better and responded quicker,” Patient simulation training involves computerized Grant adds.

Vincent Gr ant, MD mannequins that can imitate emergency scenarios Today, the Alberta Children’s Hospital is intersuch as heart attacks, life-threating injuries and nationally-recognized for pediatric simulation loss of consciousness. The computerized manne- expertise. In fact, more than twenty percent of the quins can cost as much as $75,000 each. workshop presentations at the 5th International Right now, construction workers are busy Pediatric Simulation Symposia and Workshops in installing cables and walls for the new simulation New York City are being led by Grant and his team. labs. In a few months, the doors will open to one Given this program’s outstanding success, of the few centres of its kind in Canada.

Alberta Health Services made the decision to

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Alberta Children’s Hospital Research Institute

A l eg ac y of g i v ing

Storage

Office 1

Simulation Room 1 Office 2

Mechanical

Simulation Room 2

Office 3 Coffee Rm.

Debriefing 1

Accordian Wall

Control Room 4

Debriefing 2

Simulation Room 4

Control Room 3

Simulation Room 3

Reception/ Admitting Waiting

K id SIM Centre Rendering, measuring 361.25 Sq m

The Alberta Children’s Hospital Foundation committed to research

create the new centre, about Kids Simulation Floor 370 Plansquare metres, dedicated to pediatric simulation training and research. This new Alberta Children’s Hospital centre is being outfitted with cameras, recorders, and video simulation software to assist in both feedback for the participants and on-going research with international collaboration.

Grant acknowledges the generosity of the Alberta Children’s Hospital Foundation which has provided millions of dollars in donations for the centre and the KidSIM program.

“I’m a tremendously proud member of an incredible team. The team saw the advantage and benefits of this type of education and the need for

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We are definitely improving the health of children with better trained and more adequately prepared clinicians. this centre to allow us to grow into the future as one of the premiere simulation training facilities in the world. It’s really been an inspiration to be a part of its growth here at the Alberta Children’s Hospital,” he said.

So as Grant stands in the centre, amidst the cables and dust, he knows he’s standing in a good place, a place he’s been envisioning for a very long time.

he Alberta Children’s Hospital Foundation has supported research at the Alberta Children’s Hospital and the University of Calgary for more than thirty years.

Without the Foundation’s support, much of the work at the Institute could not proceed. This past year, the Foundation provided over $10 million for child and maternal health research, including support for eight chairs, five professorships and eighteen research awards.

The Foundation is also investing in ACHRI’s research platforms, including experimental and applied therapeutics, genomics and informatics and advanced imaging.

“We are so grateful to our donors for recognizing that new cures and better treatments start with research,” says Saifa Koonar, president and CEO of the Alberta Children’s Hospital Foundation. “Their generous investments have and will continue to make possible important advancements in child health.”

“ACHRI would not exist without the Alberta Children’s Hospital Foundation and the donors who support its work in the community,” says Dr. Brent Scott, executive director of ACHRI. “A creative and strong research community is fundamental to ACHRI’s success in improving the health of Calgary children.

But an equal partner is the people of Calgary who make ACHRI’s work possible We are so grateful with donations, both large and small.” to our donors for This type of community engaged scholrecognizing that arship exemplifies the long term benefits gained by a close working relationship new cures and better among communities, researchers and care treatments start givers. We all understand that enabling the with research. creation of new knowledge today leads to improvements in health care tomorrow.

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Ge ne dis c ov e r y

Student cracks patient case

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lizabeth Digby won’t forget the day: to confirm abnormalities in four hours. Bernier Friday, September 21at 5:18 p.m. and his team have already fully and partially That’s the moment she realized she had dis- sequenced at least two dozen patients. covered a new gene mutation. She immediately “Sequencing is so important because it is sent an e-mail to her supervisor about the findings. allowing doctors to enter the stage of personalized “There’s no doubt about it, I was lucky,” the medicine, which is aiming specific treatments 25-year-old student says. for specific individuals,” Bernier says.

Digby had found a mutation in a gene that As well as the latest equipment, ACHRI is also causes neutropenia, a blood disorder leading building a team of researchers in bioinformatics to a low white cell count. The gene is identified as and genetics and has established a Translational G6PC3. The find was incre- Health Chair in Personaldible. Not only because the ized Genomics to provide patient was the University expertise and collaboration. of Calgary’s first recipient of Dr. Brent Scott, executive Sequencing is so important entire genome sequencing director of the Alberta Child- at the Alberta Children’s ren’s Hospital Research because it is allowing doctors Hospital Research Institute, Institute, is excited about to enter the stage of but also because Digby is the possibilities. personalized medicine. still a student. She’s in her “The combination of second year of medical cutting edge genetic techschool at the University nology and the opportunity of Calgary. to recruit excellent clinical investigators and As part of a specialized class, Digby was working scientists is allowing the Alberta Children’s Hospital in the Alberta Children’s Hospital genetic research Research Institute and the Alberta Children’s lab under the supervision of senior researchers Hospital to unlock the genetic basis of disease including Dr. Micheil Innes and Dr. Jillian Parboos- and improve the lives of children in Alberta,” ingh. Days after starting in the lab, she discovered says Scott. the mutation. She is grateful to her mentors and As for Elizabeth Digby, the facility has allowed to the ACHRI led genomics and informatics plat- her to make the discovery of a lifetime in her student form that facilitated the screening of the hundreds years. “I am very grateful for this opportunity,” she of thousands of gene variants. says. “It has really opened my eyes.”

The young student is reflective. “No one, including myself, expected to find the answer so quickly,” Digby says.

“She solved this mystery around neutropenia and helped this individual understand his disorder,” says Dr. Francois Bernier, the head of the Department of Medical Genetics.

Bernier is one of the members at the Alberta Children’s Hospital Research Institute who is providing the leadership in the genetic research sequencing facility. It’s equipped with three advanced DNA sequencers including a personalized genome machine (PGM) which allows researchers

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Eliz abeth Digby, U of C medical student

Dr. Francois Bernier, Head of Medical Genetics Department

Alberta Children’s Hospital Research Institute

Unde rs ta nding t he br a in

Building brain health research s a neurologist, Dr. Jong Rho knows a lot about the brain and disorders that affect it. But the first thing he would admit is that the brain remains a mystery at a molecular and genetic level. Rho wants to change that.

“Understanding the brain at the molecular level will allow us to better understand how best to intervene and treat childhood conditions and common disorders such as concussion, autism and epilepsy,” Rho says.

Rho is a Yale graduate and a post-graduate from UCLA and the National Institutes of Health in Bethesda, Maryland. He helped establish epilepsy and neurosciences programs at the childrens’ hospitals in Seattle and Phoenix. In addition, he’s been a consulting pediatric neurologist at many major hospitals throughout California.

He arrived at the Alberta Children’s Hospital in 2010. In two short years, he’s established one of the largest and most comprehensive pediatric brain injury research labs in Canada.

With the help of the Alberta Children’s Hospital Research Institute, a dozen researchers and leading scientists from varied disciplines have been brought under one roof. They’re asking basic questions about how the one-hundred billion cells in the brain work and how, at times they don’t.

In the brain research labs, scientists use robotic microscopes to examine living neurons.

Their high-tech cameras and micron sized needles pinpoint and record in real time the electric signals in brain cells and give a detailed picture of how mitochondria, the tiny energy producing factories in each cell, support neuronal function.

Specialized equipment measures how much oxygen each cell or mitochondrion is using – a key to understanding how damaged neuron cells compensate or expire.

But looking at individual cells is just the beginning.

As Rho points out, once scientists know more about how healthy neuron cells differ from unhealthy cells, they can move to the next step.

In other labs, scientists are using zebra fish as

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R i c he l l e M yc h a siuk , PhD, P o s t d o c to r a l F e l loW

an animal model to advance experimental therapeutics. Zebra fish are highly efficient models to study molecular mechanisms and targets, especially for drug development.

“These creatures are increasingly being used to screen for novel drugs, and this approach holds the potential for successfully identifying candidate drugs within a few years, in contrast to the usual 10-20 years,” Rho says.

But the picture wouldn’t be complete without more immediate impact to children at the bedside. The Alberta Children’s Hospital has acquired near infrared spectroscopy for its new concussion centre. It is the only children’s hospital in Canada to use this technology to analyze blood flow and oxygen to the brain of children who have had head injuries. And the equipment and experts who analyze the data believe it will help in making kids better, sooner.

Rho and his colleagues are dedicated to thinking about what more can be learned about this small wonder called the brain. With more scientists arriving and more research planned, Calgary will assume an important role as an international hub for pediatric brain research.

C e z a r G av ilov i c i, PhD, P o s t d o c to r a l F e l low

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These creatures are increasingly being used to screen for novel drugs.

Jong Rho, MD, Dr. Robert Hasl am Chair in Child Neurology

Ac hri Suc c e s se s

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New pediatric research 3T MRI operational

ACHRI Successes

First whole genome of patient sequenced, March 2012 ne of the largest O bench to bedside pediatric brain injury research programs in Canada

Contribute to ACHRI’s success by visiting research4kids.ucalgary.ca

Over 6,000 mothers and infants participate in one of the largest longitudinal studies on maternal health & child development in Canada

ver $20 million O in external funding secured by full members in 2012

Thanks to students at Elboya School

Mol ecul ar genetics, A nnah Sa l eem, G rade 8

Alberta Children’s Hospital Research Institute

Hea lthy Living, Tanya Isyp, G rade 8

Developing Brain, H ana G air, G rade 9

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