Health Information Series

UBC Health Information Series Presents Dr. Clara van Karnebeek, Professor, Department of Pediatrics at the UBC Faculty of Medicine

“Riding the TIDE to improve outcomes for children with neurodevelopmental disorders”

April 25, 2014 – 7.00PM to 8.00PM at the Bob Prittie Metrotown, Burnaby Public Library

Presented by the Irving K. Barber Learning Centre and Woodward Library, the Health Information Series is an ongoing public lecture series that take place in the Lower Mainland community.  clara headshot1Intellectual 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 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.

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’s Faculty of Medicine.  She is a Principal Investigator at the Centre for Molecular Medicine and Therapeutics (CMMT) and Associate Clinician Scientist at the Child and Family Research Institute (CFRI).  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.


Bob Prittie Metrotown, Burnaby Public Library (6100 Willingdon Avenue, Burnaby BC V5H 4N5).  Please register for this event here.




Partners

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UBCLibrary

A collaboration between UBC Woodward Library and the Irving K. Barber Learning Centre, Health Information Series is a series of public talks that engages the community in promoting better personal health management and a variety of health topics based on the expertise and research that happens at the University of British Columbia’s diverse medical and health sciences program. Through an innovative mix of using technology to broadcast important health topics, the Learning Centre offers not only a bridge for UBC faculty and the communities of BC, from the Lower Mainland to rural and remote areas, to create a dialogue around timely topics on the health care needs of British Columbians, but also an opportunity for the transfer and exchange of knowledge, experience and history with these local BC communities.


For more information about this series, please contact Lee Ann Bryant, Reference Librarian or Allan Cho, Community Engagement Librarian

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