Clara van Karnebeek, MD, PhD, FCCMG, is an Investigator with BC Children’s Hospital and the principal Investigator at the Centre for Molecular Medicine and Therapeutics. She is also a clinical Assistant Professor, Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia. Her research areas include:
- Discovery of novel gene defects via integrated genomics and metabolomics
- Treatable inborn errors of metabolism causing intellectual disability and epilepsy
- Clinical and digital tools for the prevention, enhanced diagnosis and treatment of intellectual disability
Dr. van Karnebeek’s research is aimed at discovering 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 the tools for early recognition and management.