World-leading children’s hospitals partner to find new treatments for pediatric diseases

Ahead of Rare Disease Day (28 February), four leading children’s research institutions on three continents are joining forces to decipher paediatric illnesses, including rare diseases, and find better treatments.

The four paediatric hospitals — Boston Children’s Hospital; UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London); the Murdoch Children’s Research Institute with The Royal Children’s Hospital (Melbourne); and The Hospital for Sick Children (SickKids) in Toronto — are working together to evaluate genomic data, clinical data from patients, and scientific and medical expertise to accelerate discovery and therapeutic development.

The partnership, known as the International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. The founding partners anticipate that additional institutions will join the collaboration in the future.

Of the more than 7,000 rare diseases that affect millions of individuals globally, only a few hundred have approved treatments. Many of these diseases mean children suffer their whole lives, or may die early from complications, sometimes just a day after birth.

IPCHiP’s goal is to enable the world’s top experts in paediatrics and genomics to work together to improve diagnosis, implement personalised treatment decisions, and develop new therapeutic targets and treatments that will benefit children around the world.

IPCHiP’s first project will involve epilepsy in infants, bringing together efforts already underway at the four hospitals.

Investigators at each site will enrol babies under age one with epilepsy, sequence their genomes, change treatment based on the findings when appropriate, and follow the children’s development long term. No patient will be identifiable from the data used, and no patient data will be shared across international borders.

The study will compare infants who receive a genetic diagnosis with those who don’t. Through this project, IPCHiP will establish systems to evaluate data responsibly across the different institutions.

The study will pioneer the use of rapid genome testing in epilepsy and will recruit 100 babies initially, with a larger study planned.

After initial seed funding by each institution, the collaborative anticipates additional funding through national health and medical research grants within each country, industry contracts, and philanthropic efforts. The collaborative as a whole has received support from the International Venture Philanthropy Network.

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Notes to Editors

Quotes by country:

UK

Professor Rosalind Smyth, Director of the UCL Great Ormond Street Institute of Child Health, said: “Our partnership will enable us to combine the collective power of our research effort to answer questions about rare diseases in children, which we are not able to answer by working only within our own centres. This will mean that we can move much more swiftly to effective treatments where none currently exist.

“We’re bringing together the world’s top experts in genomics, rare disease, paediatric medicine, and computational science to develop precision approaches to benefit children everywhere. In addition, we think our large patient cohorts will enable partnership with industry when a discovery advances to clinical trials.”

Dr Amy McTague (UCL Great Ormond Street Institute of Child Health), who is leading the epilepsy project, GeneSteps, in the UK, said: “We know that for at least 50% of babies with epilepsy, there is a genetic cause. For some, having a specific genetic diagnosis can change treatment and we want to know if finding the genetic problem earlier improves epilepsy and development in the long-term.”

Professor Helen Cross (Great Ormond Street Hospital, GOSH), President-elect of the International League Against Epilepsy, added: “This world-first collaboration, supported by the GOSH NIHR BRC and Young Epilepsy, is a unique opportunity for us to work together for patients with rare diseases such as genetic epilepsy.

“This exemplifies GOSH’s ambition to be a Research Hospital, where research is embedded across our care of children with rare and complex diseases. The new Zayed Centre for Research into Rare Disease in Children, where Dr McTague is based, also allows our work to draw from expertise at UCL’s Institute for Child Health and GOSH, while the hospital’s global reputation means we will be able to work with a large number of children and their families.”

USA

David A. Williams, MD, chief scientific officer of Boston Children’s Hospital said: “We’re looking to combine the strength of each institution and find areas where we can pair genomic data with phenotype data to find answers for these patients. We will prioritize projects that have the possibility of making a difference in their care, by developing new therapies and perhaps by repurposing an existing drug.

“We’re bringing together the world’s top experts in genomics, rare disease, pediatric medicine, and computational science to develop precision approaches to benefit children everywhere. In addition, we think our combined patient cohorts will enable partnership with industry when a discovery advances to clinical trials.”

Annapurna Poduri, MD, MPH, who is leading the Boston Children’s Hospital arm of the epilepsy project, said: “We hope to demonstrate the impact of an early genetic diagnosis in babies with epilepsy. Will children who obtain a precise genetic diagnosis have changes in treatment and fewer seizures? Will these changes improve survival and developmental outcomes? This collaboration is an opportunity to systematically provide answers to these questions, starting with a pilot of 100 children and hopefully extending to several hundred children in the coming years.”

Australia

Professor Kathryn North AC, Director of the Murdoch Children’s Research Institute in Melbourne, Australia, said: “IPCHiP brings together the clinical and research strengths of the four leading children’s medical research institutions internationally. This is a critical mass of leading researchers together with a critical mass of patients. The whole is definitely greater than the sum of its parts when it comes to genomic collaborations.

“So much of paediatrics deals with genetic, often ‘rare’ diseases, and so the combination of complementary research strengths, experience and patient cohorts will empower greater research collaboration. Ultimately, this partnership will help us find answers that families are desperately seeking, and the treatments their kids desperately need, much more quickly.

“This is a research collaboration bringing together the best minds in the world to accelerate discovery research and develop effective therapies for the world’s most precious resource – our kids.”

Professor John Christodoulou AM, Director, Genetics Theme, MCRI; Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne, said: “Being able to harness the expertise of global leaders in paediatrics and genomics gives us an unprecedented opportunity to be able to deliver rapid genetic diagnoses at scale to the sickest kids, which we believe will transform the lives of these children and their families.”

Dr Katherine Howell, Paediatric neurologist and clinician-scientist, The Royal Children’s Hospital and Murdoch Children’s Research Institute, said: “Having a prompt genetic diagnosis guides our choice of seizure medication, with dramatic effect. We’ve had a glimpse with individual babies of the possible benefits of prompt genetic diagnosis, but we now want to understand how much benefit this approach might provide to all the infants we see with these devastating conditions.

“In Melbourne we only see about 30 babies with these epilepsies every year, but by following the outcomes of hundreds of infants with epilepsy who receive cutting-edge genetic sequencing, genetic counselling and precision treatments across the IPCHiP consortium, we will be able to treat genetic epilepsy faster, more precisely and with better outcomes.”

Canada

Dr. Stephen Scherer, Director of The Centre for Applied Genomics (TCAG) at SickKids, said: “SickKids has been championing a new approach to paediatric medicine – Precision Child Health – which includes using genomics to better classify disease so it can be treated earlier and more effectively. Through IPCHiP, we can now share our expertise and resources to fuel new discoveries. By doing so, we are taking a huge leap forward in moving medicine toward data-driven treatments that take into account individual differences in each child’s genes.”

Dr. Vann Chau, Neurologist and Project Investigator in the Neurosciences & Mental Health Program at SickKids, who is leading the SickKids arm of the epilepsy project, said: “Rapid whole genome sequencing can help us find the cause of early onset epilepsy quicker and among a greater number of patients, giving clinicians the critical data they need to choose the most appropriate treatment sooner. Our hope is that this collaboration will help create new and tangible changes in medical practice to cut diagnosis from months to days, and lessen the burden on our patients and families living with epilepsy.”

Dr. Greg Costain, Staff Physician in the Division of Clinical and Metabolic Genetics, and Scientist-Track Investigator in the Genetics & Genome Biology Program at SickKids, said: “At SickKids, we have a successful track-record of conducting genomics research studies that translate from the bench to the bedside,” says “With this new international partnership, we hope to responsibly leverage research technologies and specialized expertise from world-renowned institutions to help ourselves and our colleagues provide the best care possible for all our patients and families.”

For more information, case studies (UK and Australia) or to speak to the researchers involved, please contact:

(UK) Sophie Vinter, UCL Media Relations. T: +44 (0)20 3108 7787, E:

[email protected]

(USA) Erin Tornatore, Boston Children’s Hospital T: 617-919-3110, E:

[email protected]

(Australia) Tom Keeble, MCRI communications manager, T: +61 400 764 084, E:

[email protected]

(Canada) Jessamine Luck, The Hospital for Sick Children (SickKids),
E:

[email protected]