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Neuro-Genetics Program
Clinical Activities
The initiatives in Neurogenetics have brought together a group of researchers including Dr. Sian Spacey, Dr. Michelle Mezei, Dr. Blair Leavitt, Dr. Robin Hsiung, Dr. Dessa Sadovnick, Dr. Lynn Raymond and a group of genetic counselors.
At the UBC Hospital the Neurogenetics Clinic is a referral center for British Columbia and patients seen have a wide range of inherited peripheral and CNS disorders including ataxias, channelopathies, hereditary spastic paraparesis, the phakomatoses, myotonic dystrophy, CMT, ALS, and mitochondrial disease. Many of these patients are participants in genetic research that are run through the UBC Neurogenetics Unit and have donated DNA to the clinic's DNA bank. As well there are Neurogenetic arms of the Alzheimer and MS Clinics which provide genetic counseling to patients and families with these disorders.
Research Activities
The research focus of the Neurogenetics program overall spans both translational and basic science research. Dr. Blair Leavitt has been involved in ongoing clinical research on the hereditary movement disorders, specifically the various forms of ataxias, hyperkinetic syndromes, and chorea-form disorders, as well as being involved in post-mortem studies of HD, SCA and FTD. His lab has directed attention at identifying novel forms of CAG repeat disorders and he has been involved in ongoing clinical trials looking for novel Biomarkers or testing new therapeutic agents.
Dr. Spacey’s primary clinical interests are the hereditary CNS disorders, in particular the ataxias and the channelopathies. Dr. Spacey runs a translational research program through the Neurogenetics clinic. The clinic is the point of contact between the patients and her basic science activity. The main focus of Dr. Spacey’s research is the molecular genetics of the channelopathies and ataxia. Dr. Spacey was recently awarded an operating grant from the CIHR to investigate the genetics and pathogenic mechanism of the paroxysmal dyskinesias. Additionally she holds operating grants from the National Ataxia Foundation (USA) and the Vancouver Costal Health Authority for investigation into the pathogenesis of the hereditary ataxias.
Dr. Mezei’s primary interest is in the hereditary neuromuscular diseases with a special interest in mitochondrial disease and ALS. She is currently involved in a number of research projects ranging from Predictive Testing in SOD-1 familial ALS, to Comparison of brain MR spectoscopy with measurement of brain myelin content in individuals with cognitive deficits related to phenylketonuria.Participating Divisional Members
Dr. Hsiung
Dr. Leavitt
Dr. Mezei
Dr. Raymond
Dr. Sadovnick
Dr. Spacey