Seminarios científicos IIS La Fe

Christopher E. Pearson, Ph.D: Neurodegenerative diseases, genetic variation, and therapeutic challenges


10:00-12:00 h.

Christopher E. Pearson, Ph.D. Senior Scientist, The Hospital for Sick Children, Program of Genetics & Genome Biology; Full-Professor, University of Toronto, Department of Molecular Genetics, Canada Research Chair in Disease-Associated Genome Instability Toronto, Ontario, Canada.


Dr. Pearson received Ph.D. from McGill University Cancer Centre (1994) studying DNA replication and protein-cruciform-DNA interactions, then did a post-doctoral fellowship in the Texas Medical Center in Houston (USA) to elucidate the mechanism of disease-causing DNA repeat instability in myotonic dystrophy, spinocerebellar ataxia, Huntington's disease, fragile X mental retardation, and amyotrophic lateral sclerosis.

In 1998 he was appointed at The Hospital for Sick Children Research Institute in the Program of Genetics & Genome Biology and cross-appointed to the University of Toronto in the Department of Medical Genetics, advancing to Senior Scientist and Full Professor. 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 Health Research.

In 2019 he was appointed Canada Research Chair in DiseaseAssociated Genome Instability. He has been a Member of International Myotonic Dystrophy Consortium since inception in 1999. He serves, or has served on scientific advisory boards for the National Fragile X Foundation USA, National Ataxia Foundation USA, Hereditary Disease Foundation, The Canadian Neuromuscular Disease Registry, BioMarin-Prosensa Therapeutics, GlaxoSmithKline, AMO Pharma, and has served as an ad hoc scientific advisor for The Marigold Foundation, TREAT-NMD, and the Fragile X Research Foundation Canada.

He has diligently served the American Society of Human Genetics and been a member of the Awards Committee for the American Society of Human Genetics since 2009 and was Chair of that committee from 2012-13. He has co-organized the International Conference on Unstable Microsatellites & Human Disease for the past nine iterations, since 2002, as wells as numerous international myotonic dystrophy meetings. He has been Associate Editor for PLoS Genetics, Journal of Medical Genetics, and Human Genetics (since 2007). Christopher's laboratory has for the past two decades studied the mechanisms of disease-causing repeat instability associated with neurological, neurodegenerative and neuromuscular disease, with the goal of developing effective treatments. In addition to a focus on how DNA repair can drive disease-causing repeat mutation, his lab also studies how DNA repair can protect against cancer-causing mutations. He has published over 95 peer-reviewed studies.

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