Pediatric Neurology Grand Rounds: New Adventures in Neurogenetics
Dr. Jim Dowling鈥檚 talk is scheduled from 8:30 to 9:30 a.m., followed by a coffee break from 9:30 to 10:00 a.m. This break offers a chance to network and engage in discussions with Dr. Dowling.
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Pediatric Neurology Grand Rounds
New Adventures in Neurogenetics
Jim Dowling, MD, PhD
Senior Scientist, Genetics & Genome Biology, The Hospital for Sick Children
Professor, Departments of Paediatrics and Molecular Genetics, University of Toronto
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Abstract:听Rare disease is defined as impacting less than 1<2000 individuals. There are, however, more than 8000 individual rare diseases, impacting 300 million people worldwide. The majority of rare pediatric diseases impact the nervous system, and fit into the category of neurogenetic disorders. In this presentation, I will outline the current state of diagnostics for neurogenetic diseases, and describe some of the new strategies being applied to 鈥渟olve the unsolved鈥�. I will elaborate on how the genetic diagnosis improves clinical care, and how it provides a springboard for new, innovative therapeutic approaches. I will conclude by presenting examples of how we have gone from diagnosis to individualized treatment, and outline our proposed pipeline for future therapy development.
