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sector_ico_Health_trans Human Health

GEL-GBC Rare Disease Pilot Study

  • Project Leaders: Wyeth Wasserman, Richard Scott
  • Institutions: University of British Columbia (UBC)
  • Budget: $825589
  • Program/Competition: Genomics England Ltd. Partnership
  • Genome Centre(s): Genome British Columbia
  • Fiscal Year: 2016
  • Status: Closed

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 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.
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.