Dr. Clara van Karnebeek
We are pleased to announce that Dr. Clara von Karnebeek is a recipient of the prestigious Michael Smith Foundation for Health Research (MSFHR) Scholar Award, Clinical Category for her research: “Omics2TreatID: Improving diagnosis and treatment of intellectual disability via an integrated-omics approach”
With a maximum term of five years, MSFHR Scholar Awards help British Columbia create and sustain a base of excellence that fosters world-class research across the health spectrum. MSFHR Scholar Awards enable recipients to: focus on research activities; train the next generation of investigators; attract additional funding from national and international sources; and generate high-quality knowledge economy jobs.
Dr. Clara van Karnebeek, Pediatrician and Biochemical Geneticist at BC Children’s Hospital (BCCH), currently serves as Assistant Professor in the Division of Biochemical Diseases, Department of Pediatrics, UBC. Since obtaining her PhD in the genetics of intellectual disability in 2002, Dr. van Karnebeek has been actively bridging her clinical work with passion for medical research.
Some of Dr. van Karnebeek’s most significant contributions pertain to innovation of diagnosis and treatment of inborn errors metabolism in intellectual disability patients, and translation into improved outcomes via prevention of brain damage and optimization of neurologic symptoms. Her research has led to the creation and design of the WebAPP www.Treatable-ID.org for handheld devices, which translates the knowledgebase she compiled for a systematic review into a clinical tool which facilitates the diagnosis and treatment of 81 treatable inborn errors of metabolism. As a Co-Principal Investigator with Dr. Sylvia Stockler, Head of the Biochemical Division at BCCH on the Treatable Intellectual Disability Endeavour (TIDE) project, a BCCH Collaborative Area of Innovation Grant, Dr. van Karnebeek successfully led the implementation of the TIDE diagnostic protocol at BCCH. The study identified treatable inborn errors of metabolism in 5% of all intellectual disability patients, and showed reduced time to diagnosis and cost-savings. Working with leading applied genomics and metabolomics researchers, Dr. van Karnebeek’s team is discovering novel gene defects causing intellectual disability which are amenable to treatment, with 5 novel genes thus far identified. This Omics2TreatIOD team, with Dr. van Karnebeek serving as PI, was recently awarded Genome BC and CIHR funding to expand their work with affected families around the globe, and generate knowledge on underlying disease mechanisms and targets for treatments.
Dr. van Karnebeek is the recipient of Laura McRae Award for Excellence in Pediatrics from the University of BC/BC College of Physicians and Surgeons, Pediatrics, the 2012 Digital Health Innovation Summit award for her work on www.Treatable-ID.org WebApp, and Most Outstanding Autism Research Distinction from the Dutch Scientific Journal for Autism. She was recently selected as a finalist for the 2013 CIHR’s IG Maud Menten New Principal Investigator Prize, Clinical Theme. Dr. van Karnebeek is actively involved in philanthropic activities as a founder, researcher, and supporter of several non-profit organizations including Tour de TIDE and Foundation Tweega Medica in East Africa.
Dr. van Karnebeek also serves as Co-Chair for the popular TGIF seminar series hosted by the CMMT.