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.
A specific challenge this initiative seeks to overcome is how to share diverse medical information beyond data generated by WGS. To effectively study these conditions, researchers must share clinical data such as results from x-rays or information from physical exams. Sharing this information in a standardized way, enables researchers to compare patients seen in different counties, by different doctors and still be confident that they are comparing apples to apples and not apples to oranges.
“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.”
By standardizing how rare diseases are characterized and publishing their findings in academic journals, the research team hopes to bolster international efforts to diagnose rare diseases.
“Genomics is the science of variation — researchers can gain a better understanding of disease by comparing the similarities and differences of our DNA to others. For known conditions, we look at specific genes, but for rare diseases, the disease-causing differences or mutations in the DNA sequence can be more difficult to identify,” says Dr. Catalina Lopez-Correa, Genome BC’s Chief Scientific Officer and VP Sectors. “Sequencing the whole genome and comparing it with other genomes from patients with similar diseases captures everything allowing for discovery of differences in the genome wherever they exist.”
This is one of several projects stemming from the Memorandum of Understanding (MOU) signed between Genome British Columbia and Genomics England in August 2015 to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases. The MOU reflects the mutual desire to share and co-develop information and tools, and a mechanism for the international exchange of knowledge, data and materials in the field of genomics.