A new partnership pilot project between Genome British Columbia (Genome BC) and Genomics England will focus on improving the diagnosis of rare diseases in children while furthering the discovery of new, novel diseases in BC and around the world.
More than 80 per cent of the 7000 known rare diseases are genetic in origin. Genetic disorders of children are individually rare but collectively frequent, affecting the lives of approximately 500,000 children in Canada.
In collaboration with Genomics England, researchers at the BC Children’s Hospital Research Institute are launching a new project that will create a collective pool of 1100 patients with two subsets of rare diseases, intellectual disability and epileptic encephalopathies. Of those patients, 100 will be recruited from clinics at BC Children’s Hospital and 1000 from clinics in England.
This international collaboration is necessary to create an adequate sample size to investigate these rare, life-limiting conditions. Children with intellectual disability often have difficulty reasoning, learning, problem solving and interacting with others. Epileptic encephalopathies are a group of severe brain disorders; children with these syndromes often experience seizures and severe developmental delays.
Researchers will use whole genome sequencing (WGS) to shed light on the genetic cause of these conditions and, in some cases, find answers for patients and families who have endured an odyssey of unnecessary tests, procedures and treatments in their search for a diagnosis.
