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Riding the TIDE to Improve Outcomes for Children With Neurodevelopmental Disorders van Karnebeek, Clara


Webcast sponsored by the Irving K. Barber Learning Centre and hosted by Burnaby Public Library's Bob Prittie Metrotown Library as part of the UBC Library's Health Information Series. 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. Individuals 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 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 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.

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