The world’s leading children’s hospitals collaborate to create new treatments for children’s diseases

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

The Four Children’s Hospitals – Boston Children’s Hospital; UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital (London); Murdoch Children’s Research Institute with Royal Children’s Hospital (Melbourne); And Hospital for Sick Children (SickKids) in Toronto – work together to evaluate genetic data, clinical data from patients, and scientific and medical expertise to accelerate discovery and treatment development.

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

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

The goal of IPCHiP is to enable the world’s leading experts in pediatrics and genomics to work together to improve diagnosis, implement personalized treatment decisions, and develop new treatment goals and treatments that will benefit children around the world.

The first IPCHiP project will involve epilepsy in infants and bring together efforts already underway in the four hospitals.

Investigators at each site will record children younger than one year of age with epilepsy, sequencing their genomes, changing treatment based on outcomes as appropriate, and following up on children’s development in the long term. No patient will be identified from the data used, and patient data will not be shared across international borders.

The study will compare children who receive a genetic diagnosis with those who have not been diagnosed. Through this project, IPCHiP will create systems to evaluate data responsibly across different organizations.

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

After initial initial funding by each institution, the cooperative expects additional funding through in-country national health and medical research grants, industry contracts, and philanthropic efforts. The cooperative as a whole receives support from the International Philanthropy Network.


Notes to Editors

Quotes by country:

United kingdom

Professor Rosalind Smith, Director of the Great Ormond Street Institute of Child Health at University College London, said: “Our partnership will enable us to combine the collective strength of our research efforts to answer questions about rare diseases in children, which we cannot answer by working only within our own centers. It means we can move more quickly to effective treatments where they currently do not exist.

“We are bringing together the world’s best experts in genomics, rare diseases, paediatrics and computational sciences to develop accurate approaches to benefit children everywhere. In addition, we believe that our large patient groups will enable partnerships with industry as the discovery advances to clinical trials.”

Dr Amy Mactag (Great Ormond Street Institute of Child Health at UCLA), who leads the Epilepsy Project, Gene Steps, in the UK, said: “We know that for at least 50% of children with epilepsy, there is a genetic cause. For some, getting a specific genetic diagnosis can change treatment and we want to know if finding the genetic problem early improves epilepsy and long-term development.

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

“This embodies GOSH’s ambition to be a research hospital, where research is embedded in our care of children with rare and complex diseases. The new Zayed Center for Research on Rare Diseases in Children, where Dr. McTago is based, allows our work to benefit from the expertise of UCL Child Health and GOSH, while the hospital’s global reputation means that we will be able to work with a large group of children and their families. ”


David A. Williams, chief scientific officer at Boston Children’s Hospital: “We are looking to combine the power of each organization and find areas where we can pair genetic data with phenotype data to find answers for these patients. We will prioritize projects that have the potential to make a difference in their care, through Developing new treatments and possibly by reallocating an existing drug.

“We bring together the world’s best experts in genomics, rare diseases, paediatrics and computational sciences to develop accurate approaches to benefit children everywhere. Additionally, we believe that our patient groups will enable us to partner with industry as the discovery advances to clinical trials.”

“We hope to show the effect of early genetic diagnosis on children with epilepsy. Will children who get an accurate genetic diagnosis have fewer changes in treatment and fewer seizures? Will it improve?” Said Annapurna Podori, MD, MPH, who leads the Boston Children’s Hospital arm for the epilepsy project. “These survival changes and growth outcomes? This collaboration represents an opportunity to provide regular answers to these questions, starting with a pilot of 100 children and hopefully extending to several hundred children in the coming years.”


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

“Much paediatrics deals with genetic diseases, which are often ‘rare’, so combining complementary research strengths with experience and cohorts of patients will enable increased research collaborations. Ultimately, this partnership will help us find the answers families seek. Badly, and the treatments their children desperately need, more quickly.

“This is a research collaboration that brings together the best minds in the world to accelerate exploratory research and develop effective treatments for the world’s most precious resource – our children.”

Professor John Christodoulou AM, Director, Department of Genetics, MCRI; Head of Department of Genomics, Department of Paediatrics, University of Melbourne said: “The ability to harness the expertise of global leaders in pediatrics and genomics gives us an unprecedented opportunity to be able to provide rapid, large-scale genetic diagnostics for the sickest children, which we believe will change the lives of these children. And their families. ”

We have peeked at individual children about the potential benefits of rapid genetic diagnosis, but we want it now. To understand how beneficial this approach might be for all children we see with these devastating conditions.

“In Melbourne, we only see about 30 children with epilepsy every year, but by following the results of hundreds of children with epilepsy who receive advanced genetic sequences, genetic counseling and delicate treatments through the IPCHiP consortium, we will be able to treat epilepsy faster, more accurately and with better results.” .


Dr Stephen Shearer, director of the Center for Applied Genomics (TCAG) at SickKids, said: “SickKids has been advocating for a new approach to pediatrics – Precision Child Health – which includes using genomics to better classify diseases so they can be treated earlier. And more effectively. “IPCHiP, we can now share our experiences and resources to support new discoveries. By doing this, we are making a huge leap forward in moving medicine toward data-based treatments that take into account individual differences in each child’s genes.”

Dr Fan Chau, a neurologist and project investigator in the SickKids Neurosciences and Mental Health Program, who leads the SickKids arm of the Epilepsy Project, said: “Rapid whole genome sequencing can help us find the cause of epilepsy onset faster and among a larger number of patients,” said Dr. Doctors need the important data they need to choose the most appropriate treatment sooner. We hope that this collaboration will help bring about new and tangible changes in medical practice, cutting the diagnosis from months to days, and easing the burden on our patients and families who suffer from epilepsy. “

“At SickKids, we have a strong track record of conducting genomic research studies that translate from seat to bed,” said Dr. Greg Kosten, MD, MD in the Division of Clinical and Metabolic Genetics, and Researcher Pathway Scientists in the Genetics and Genomics Program at SickKids: “At SickKids, we have a strong track record of conducting genomic research studies that translate from seat to bed,” he says With this new international partnership, we hope to responsibly leverage research techniques and specialized expertise from world-renowned institutions to assist ourselves and our colleagues in providing the best possible care for all of our patients and families. “

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

(UK) Sophie Venter, UCL Media Relations. Phone: +44 (0) 20 3108 7787, e: [email protected]

(USA) Irene Tornator, Boston Children’s Hospital T: 617-919-3110, E: [email protected]

(Australia) Tom Keppel, Director of MCRI Communications, Tel: +61400764084, Email: [email protected]

(Canada) Jessamine Luck, Hospital for Sick Children,
And the: [email protected]

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