Vancouver, B.C. - A study published in The New England Journal of Medicine is one of the first to show the life-changing benefits of genome-wide sequencing for children with certain kinds of intellectual disability.
The work was led by researchers at BC Children’s Hospital, an agency of theProvincial Health Services Authority, and the University of British Columbia.
The researchers diagnosed 68 per cent of the 41 families in the study with the precise underlying genetic condition and, based on this, were able to offer targeted treatments to more than 40 per cent of cases. They also discovered 11 new disease genes and described new physical traits and symptoms associated with a number of known diseases.
“This research is very encouraging because for a subset of patients we can identify the genetic underpinning of their intellectual disability and then determine the right intervention,” says Dr. Clara van Karnebeek, the study’s lead author, a paediatrician and biochemical geneticist at BC Children’s Hospital, and principal investigator in the Centre for Molecular Medicine and Therapeutics at the University of British Columbia. “There’s a bright future ahead for personalized medicine informed by genetic diagnosis.”
Read the full news release on this research and the article, Tarailo-Gravac M, et al. Exome Sequencing and the Management of Neurometabolic Disorders, New England Journal of Medicine, May 25, 2016.
Jennifer Killam, Communications
BC Children's Hospital
Clara van Karnebeek, MD PhD FCCMG