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Professor, Head, Department of Biochemistry & Medical Genetics, Faculty of Medicine, University of Manitoba
1987 PhD (Medical Biophysics-Medical Genetics), University of Toronto
1981 BSc (Biology, Honour s Program), McGill University
The major focus of my research concerns a severe neurodegenerative disorder known as €œSpinal Muscular Atrophy or SMA. SMA is the most common cause of early infant death and results from mutations in the €œSurvival Motor Neuron (SMN) gene. Spinal cord motor neurons are most sensitive to the loss of SMN protein; thus, motor neurons degenerate early in the disease process. Because muscle is no longer stimulated by motor neurons, muscles atrophy and SMA patients become wheel chair dependent. In its most severe form, type 1 SMA infants die within the first two years of life due to respiratory failure. SMA affects about 1 in 6000 live born children, and 1 in 40 individuals are SMA carriers. My laboratory has made important contributions in the area of SMA genetics and translating this knowledge to DNA diagnostic applications. In addition, we were among the first groups to demonstrate that SMN protein is very abundant in growth cones which are structures at the tip of axons that are migrating towards their target muscle.
There is no cure for SMA; however, researchers throughout the world are searching for treatments using a number of different strategies. These strategies include gene therapy, stem cell replacement therapy, and pharmacological approaches. The pharmacological approaches include neuroprotective molecules, as well as compounds that could increase the amount of SMN protein available to SMA patients. Indeed, such compounds are currently being tested in SMA Clinical Trials. However, the current drugs may not be the most effective and the search for €œnovel drugs is on-going in both academic and industry settings.
An emerging research interest is focused on identifying genetic and environmental risk factors contributing to Attention Deficit Hyperactivity Disorder (ADHD). We have collected DNA samples for 500 ADHD families comprised of parents and one ADHD child. At this time, we are investigating specific €œcandidate genes and determining whether these genes are associated with clinical manifestations of ADHD. This work is challenging because, in contrast to SMA which is a single gene disorder, ADHD is a complex trait caused by gene-gene and gene-environment interactions. Because the genes involved have very subtle changes, it is difficult to identify these €œvariants and prove that these changes are directly linked to ADHD.