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.

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.

“This project will enable us to accurately compare patients across the globe, contribute to the identification of novel disease-causing genes and, most importantly, help to find a diagnosis for children with previously unexplained disorders,” said Dr. Wyeth Wasserman, project lead and Executive Director, BC Children's Hospital Research Institute.

“For these children and their families, a diagnosis can be life-changing. It sheds light on the causes of their disorder and can, in some cases, lead to new care and treatment options.”

Read the Genome BC news release for more information.