Intellectual disabilities are no longer necessarily an unchangeable fate. Today, new tools allow us to diagnose and treat specific genetic conditions that cause developmental delay and intellectual disability, previously thought to be permanent. Individual with intellectual disabilities often develop epilepsy and autism—much of which can now be prevented through life-changing treatments.

Dr. van Karnebeek and her team already successfully identified a number of these defects, developed new treatments and were able to enhance identification of these diseases in BC Children’s Hospital. Over the past 2 years, 400 children with intellectual disability were systematically screened and 5% were identified to have treatable condition; treatment in these cases improved behavior, cognition and often changed the lives of the whole family.  These diagnostic tools – a protocol supported by the App – are now used by physicians around the world, allowing them to recognize diseases in newborns and treat these vulnerable patients before they suffer critical brain damage.

The research of Dr. van Karnebeek, Assistant Professor in the Department of Pediatrics and scientist in the Centre for Molecular Medicine and Therapeutics (CMMT) at UBC, 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. The Treatable Intellectual Disability Endeavor (TIDE) is a large collaborative effort Dr. van Karnebeek established alongside Sylvia Stockler. Its goal is to harness new technologies for the discovery of genetic defects in children who appear to have intellectual disabilities and to provide clinicians with the tools for early recognition and management.

Speaker Bio
Dr. van Karnebeek is a Certified Pediatrician and Biochemical Geneticist at the BC Children’s Hospital (BCCH). She is currently serving as Clinical Assistant Professor in the Department of Pediatrics, at the University of British Columbia, Vancouver. Over the last decade since obtaining her PhD in the genetics of intellectual disability, 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 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 researcher, 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 seving 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. More can be read about the projects in the cover story of the Summer 2013 Edition of the BC Children’s Hospital Foundation’s Speaking of Children.

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 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 nonprofit organizations including Tour de TIDE and Foundation Tweega Medica in East Africa.

UBC Library Resources

van Karnebeek, C. D., Houben, R. F., Lafek, M., Giannasi, W., & Stockler, S. (2012). The treatable intellectual disability APP w ww. treatable-id. org: A digital tool to enhance diagnosis & care for rare diseases. [Link]

Van Karnebeek, C. D., Jansweijer, M. C., Leenders, A. G., Offringa, M., & Hennekam, R. C. (2005). Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. European journal of human genetics13(1), 6-25. [Link]

Merks, J. H., van Karnebeek, C. D., Caron, H. N., & Hennekam, R. (2003). Phenotypic abnormalities: terminology and classification. American Journal of Medical Genetics Part A123(3), 211-230. [Link]

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