Extraneuronal manifestations in Spinal Muscular Atrophy

Rashmi Kothary, PhD
Deputy Scientific Director, Ottawa Hospital Research Institute
Professor, Department of Medicine, Department of Cellular and Molecular Medicine, University of Ottawa
Kothary Lab
Ottawa, ON, Canada

This conference is hosted by Jean Vacher, PhD. This conference is part of the 2022-2023 IRCM conference calendar.

In person: 
IRCM Auditorium
110, avenue des Pins O, H2W 1R7 Montreal
Wearing a mask is mandatory at all times

Online:
Zoom Link : https://zoom.us/j/95269762104
ID : 952 6976 2104
Code : 476372

IRCM conferences are set to occur under a hybrid format. However, please note that last-minute changes to online-only lectures may occur due to unforeseen circumstances. We invite you to visit this webpage again a few days before attending.

About this conference: 
We are studying the pathogenesis of the genetic disease spinal muscular atrophy (SMA), which is characterized by progressive degeneration of the large motor neurons in the spinal cord and consequent muscular atrophy. Accumulating evidence, much of it from my lab, shows that abnormalities in other cell types and organs also contribute to the overall disease burden in SMA. We have shown glucose metabolism and pancreatic developmental defects in SMA. This work points to the need for metabolic assessment and therapeutic intervention when considering clinical care management for SMA patients. We have demonstrated intrinsic muscle defects in SMA and most recently described immune organ defects. This latter work raises the question of whether immune dysfunction and neuroinflammation contribute to disease pathogenesis. In other research, we discovered liver abnormalities and lipid metabolic defects in SMA. As therapies for SMA come on the market and children live longer, the expectation is that the extended life span will unmask additional health problems and co-morbidities that will need attention. Collectively, our work highlights SMA as a multi-organ disorder. These unanticipated discoveries of SMA pathogenesis were initially deemed controversial yet are now widely accepted as critical drivers of overall SMA pathology, a discovery initiated and championed by my laboratory.

About Rashmi Kothary:
Dr. Rashmi Kothary is the Deputy Scientific Director and a Senior Scientist at the Ottawa Hospital Research Institute (OHRI). He has held the University Health Research Chair in Neuromuscular Disorders and is a Professor at the University of Ottawa, in the Departments of Medicine, of Cellular and Molecular Medicine, and of Biochemistry, Microbiology and Immunology. His current research focuses on investigating factors important for oligodendrocyte mediated myelination and remyelination of the CNS (in the context of Multiple Sclerosis) and understanding Spinal Muscular Atrophy pathogenesis to identify novel therapeutics for this devastating children’s disease. His work, mostly funded by CIHR, has produced close to 200 publications.

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