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UID:20250508T004924EDT-8425UJmb02@132.216.98.100
DTSTAMP:20250508T044924Z
DESCRIPTION:Dr. Jim Dowling’s talk is scheduled from 8:30 to 9:30 a.m.\, fo
 llowed by a coffee break from 9:30 to 10:00 a.m. This break offers a chanc
 e to network and engage in discussions with Dr. Dowling.\n\n\nRegister her
 e.\n\nTo watch virtually\, click here\n\n\nPediatric Neurology Grand Round
 s\n\nNew Adventures in Neurogenetics\n\nJim Dowling\, MD\, PhD\n\nSenior S
 cientist\, Genetics & Genome Biology\, The Hospital for Sick Children\n\nP
 rofessor\, Departments of Paediatrics and Molecular Genetics\, University 
 of Toronto\n\n \n\nAbstract: Rare disease is defined as impacting less tha
 n 1<2000 individuals. There are\, however\, more than 8000 individual rare
  diseases\, impacting 300 million people worldwide. The majority of rare p
 ediatric 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 “solve the unsolved”. 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 b
 y presenting examples of how we have gone from diagnosis to individualized
  treatment\, and outline our proposed pipeline for future therapy developm
 ent.\n
DTSTART:20241128T133000Z
DTEND:20241128T143000Z
LOCATION:de Grandpré Communications Centre\, CA\, QC\, Montreal\, H3A 2B4\,
  The Neuro\, 3801 rue University
SUMMARY:Pediatric Neurology Grand Rounds: New Adventures in Neurogenetics
URL:/neuro/channels/event/pediatric-neurology-grand-ro
 unds-new-adventures-neurogenetics-361160
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