GOSH JOINS GLOBAL COLLABORATION ON GENOMICS Sharing knowledge, expertise and data with international colleagues will pave the way to better treatments for children. Pioneer finds out more. 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 either affect children their whole lives, or may lead to early death from complications, sometimes just a day after birth. More than 28,000 children with rare diseases are treated at Great Ormond Street Hospital (GOSH) – but it’s international collaborations that can really boost the search for treatments . To help achieve this, GOSH joined forces with three other leading children’s research institutions earlier this year to decipher paediatric illnesses, including rare diseases, and find better treatments. GOSH, alongside UCL Great Ormond Street Institute for Child Health (ICH), is now working with Boston Children’s Hospital, the Murdoch Children’s Research Institute with The Royal Children’s Hospital in Melbourne, and The Hospital for Sick Children (SickKids) in Toronto to evaluate genomic data, clinical data from patients, and scientific and medical expertise to accelerate the 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 and it’s hoped that additional institutions will join the collaboration in the future.
THE GOAL IPCHiP aims 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. “Our partnership will enable us to combine the collective power of our research effort to answer questions about rare diseases in children, which we’re not able to answer by working only within our own centres,” ICH Director Professor Rosalind Smyth 32 PIONEER
explains. “This will mean that we can move much more swiftly to effective treatments where none currently exist.”
GLOBAL IMPACT IPCHiP’s first project involves epilepsy in infants, bringing together efforts already underway at the four hospitals. For the project – entitled GeneSteps – 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 those 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. “We know that for at least 50% of babies with epilepsy, there is a genetic cause,” ICH Principal Research Fellow Dr Amy McTague says, who is leading GeneSteps in the UK.“ 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.” The study will pioneer the use of rapid genome testing in epilepsy and will recruit 100 babies initially, with a larger study planned. “This world-first collaboration, supported by the GOSH National Institute of Health Research (NIHR) Biomedical Research Centre (BRC) and charity Young Epilepsy, is a unique opportunity for us to work together for patients with rare diseases such as genetic epilepsy,” GOSH Honorary Consultant in Paediatric Neurology, President-elect of the International League Against Epilepsy and an investigator on the project Professor Helen Cross adds. “This exemplifies GOSH’s ambition to be a research hospital, where research is
