Centre for Research in Biomolecular Interactions presents Prof. Christopher Pearson, Senior Scientist, Genetics & Genome Biology, The Hospital For Sick Children; Associate Professor, Department of Molecular Genetics, University of Toronto

Talk Title: "Slipped-DNAs, DNA Repair, and Repeat-Associated Diseases"

Abstract:

At least 40 neurodegenerative and neuromuscular disease are caused by DNA mutations in gene-specific repeated DNA sequences, where the repeat tracts expand to increased numbers of repeat units. These repeat-associated diseases include Huntington’s disease, myotonic dystrophy, and Lou Gehrig’s disease. Most of these diseases are progressive as the individual ages. In the non-affected population these gene-specific repeats are genetically stable, while in affected families they expand upon parent-to-offspring transmission. Furthermore, the repeats continue to undergo expansion mutations as the individual ages, where the largest expansions occur in the more severely affected tissues like the brain, heart and skeletal muscle. Such ongoing repeat expansions are sources of increasing disease severity – making it particularly important to understand how these somatic mutations arise. Repeat mutations like involve slipped-strand DNAs, formed by out-of-register mis-pairing of repeat units on complementary DNA strands. The formation and aberrant processing of these slipped DNAs is a likely source of mutations. I will present data that supports a role of how slipped-DNA structure and DNA mismatch repair are contributing to disease-associated repeat instability.

 

For more information please visit the Pearson Lab website:

www.cepearsonlab.com

About the Speaker:

Dr. Pearson received his Ph.D. from McGill University (1994) studying DNA replication and protein- cruciform-DNA interactions, then did a post-doctoral fellowship in the Texas Medical Center in Houston working on elucidating the mechanism of disease-causing repeat instability in myotonic dystrophy, spinocerebellar ataxia, and fragile X mental retardation. In 1998 he was appointed at The Hospital for Sick Children Research Institute in the Program of Genetics & Genome Biology and was cross-appointed to the faculty at the University of Toronto in the Department of Medical Genetics, advancing to Senior Scientist and Associate Professor in 2004. In 1999 he was appointed as a Scholar of the Medical Research Council of Canada. In 2001 he was appointed as a Scholar of the Canadian Genetic Disease Network, Canadian Network Centres of Excellence; awarded The Ontario Premier’s Research Excellence Award; and in 2006 received the International Opportunities Award, Canadian Institutes of Heath Research. He has been a Member of International Myotonic Dystrophy Consortium since inception in 1999. He serves on advisory boards for the National Fragile X Foundation USA, National Ataxia Foundation USA, The Canadian Neuromuscular Disease Registry, Prosensa Therapeutics, and has served as an ad hoc scientific advisor for The Marigold Foundation, TREAT-NMD, Cure Huntington’s Disease International, and the Fragile X Research Foundation Canada. He has been a member of the Awards Committee for the American Society of Human Genetics since 2009 and as of 2012 is the Chair of that committee. He has co-organized the International Conference on Unstable Microsatellites & Human Disease for the past four iterations, since 2004. He is an Associate Editor for PLoS Genetics, Journal of Medical Genetics, and Human Genetics. His laboratory studies the mechanisms of disease-causing repeat instability associated with neurological and neuromuscular disease, with the goal of developing effective treatment. He has published over 60 peer-reviewed studies.

Please join us,

Refreshments will be served.