Children's Health

World-leading research institutions join forces to find better 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 pediatric illnesses, including rare diseases, and find better treatments.

The four pediatric 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 pediatrics and genomics to work together to improve diagnosis, implement personalized 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 enroll 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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