Investigator, BC Children’s Hospital & Principal Investigator, Centre for Molecular Medicine and Therapeutics
Dr. van Karnebeek’s research aims to discover new inborn errors of metabolism, a class of genetic diseases that is particularly amenable to treatment. Her team uses a multidisciplinary approach involving the study of three “-omics” in patients: phenomics, their physical and biochemical properties, genomics, their genetic information, and metabolomics, their metabolite profiles. She established two large collaborative efforts, the Treatable Intellectual Disability Endeavor in BC (TIDEBC.org with Sylvia Stockler) and the international Omics2TreatID (omics2treatid.org), aimed at harnessing these new technologies for the discovery of genetic defects in children who present with intellectual disabilities and providing clinicians with the tools for early recognition and management.
Dr. van Karnebeek and her team already successfully identified a number of these defects, developed new treatments and were able to enhance the identification of these diseases in BC Children’s Hospital. Over the past two years, 400 children with intellectual disability were systematically screened, and 5% were identified to have treatable conditions; treatment in these cases improved behaviour, cognition and often changed the lives of the whole family.
These diagnostic tools – a protocol supported by the Treatable-ID.org App – are now used by physicians around the world, allowing them to recognize diseases in newborns and treat these vulnerable patients before they suffer important brain damage.
