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Dr. Clara Van Karnebeek
Clinical Scientist

Faculty of Medicine

Omics2TreatID applies an integrated –omics approach for discovery of causally treatable genetic defects in children suffering intellectual disability (ID) and unexplained metabolic phenotypes.  Our multi-disciplinary team utilizes deep clinical phenotyping focusing on results of routine biochemical genetic evaluations (phenomics) and innovative metabolomic technologies to formulate and validate hypotheses for candidate genes revealed by whole exome / genome sequencing  (genomics). Metabolomics is utilized to obtain better insight in the biochemical pathophysiology and thus to identify treatment targets. With our discovery of carbonic anhydrase VA deficiency and several other novel inborn errors of metabolism, we show that insight into the metabolic consequences of a novel gene defect not only facilitates bio-informatics, proof of causality, but also reveals treatment targets (nutritional / pharmacological correction of abnormal biochemical substances and/or manipulation of affected pathways) to prevent brain damage.  We directly translate findings into clinical care via our TIDE-BC program at BC Children’s Hospital, and international collaborations.

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