Vanessa Wheeler is an Assistant Professor in Neurology at Harvard Medical School and Assistant in Genetics at the Massachusetts General Hospital. Dr. Wheeler graduated from Cambridge University and received her Ph.D. from the Imperial College of Science, Technology and Medicine, University of London. Her postdoctoral training was carried out in the laboratory of Dr. Marcy MacDonald at MGH.
Dr. Wheeler’s research is focused on understanding the mechanisms underlying Huntington’s disease (HD) pathogenesis and triplet repeat instability in HD. Using accurate mouse models of the disease she uses genetic studies to identify modifiers of instability and/or the pathogenic process. Modifier genes identified in the mouse are then tested as modifiers of disease in HD patient populations. Modifier genes give direct insight into the pathways that influence HD expression, providing proven targets for drug intervention. As the underlying genetic defect in HD is the expansion of a CAG repeat the ultimate goal in understanding the mechanisms that govern repeat instability would be to find reagents that either prevent repeat expansion into the pathogenic range or cause contraction into the non-pathogenic range. Ongoing projects include: investigations of the role of DNA repair genes in triplet repeat instability and disease; the identification of modifier loci in mouse models using quantitative trait locus analysis of HD phenotypes in congenic strains.
The laboratory currently receives funding from the NIH (NINDS) and the HighQ Foundation.
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