Ottawa Hospital Research Institute

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Spinal muscular atrophy

Spinal muscular atrophy (SMA) is the number one genetic cause of death in infants. Researchers at The Ottawa Hospital are leading cutting-edge studies to improve our understanding of SMA and develop better treatments. This page includes selected news stories about our SMA research, links to researchers working in this area and related resources. Learn more below.

Research News

	Whole-body approach needed to treat neuromuscular disease SMA July 13, 2022 - Treating a patient’s entire body, not just the nerves in their muscles, is essential for the complete treatment of spinal muscular atrophy (SMA), according to a study led by Aoife Reilly in Dr. Rashmi Kothary’s group.
	Researchers at The Ottawa Hospital awarded eight grants worth $5 million from the Canadian Institutes of Health Research August 10, 2021 - These projects will advance science and improve health in areas such as cancer immunotherapy, orthopedic surgery, long-term care, neuromuscular disease, blood clots, vascular disease, aging, kidney disease and Inuit health.
	New mouse model to reveal insights into mild spinal muscular atrophy June 4, 2020 - Dr. Marc-Olivier Deguise from Dr. Rashmi Kothary’s team has developed a new mouse model of mild spinal muscular atrophy (SMA). Until now, researchers only had good animal models of the most severe forms of this disease.
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	New neuromuscular network brings patients, scientists and clinicians together February 14, 2020 - Genetic sequencing technology has dramatically increased our ability to diagnose rare neuromuscular diseases, opening the door to earlier and better treatment. A new national network called NMD4C (NeuroMuscular Disease for Canada) hopes to capitalize
	Findings could improve quality of life for people with spinal muscular atrophy September 10, 2019 - People with spinal muscular atrophy (SMA) could be at higher risk of cardiovascular and liver disease, according to the most comprehensive study to date. This means that screening for these conditions, establishing nutritional guidelines, and persona
	Trainee receives Canadian Medical Hall of Fame Award September 25, 2018 - Marc-Olivier Deguise, a MD/PhD student in Dr. Rashmi Kothary's lab, will receive the 2018 Jim Glionna Canadian Medical Hall of Fame Award for medical students in a ceremony in Montreal on May 2, 2019. This award recognizes medical students with a tra
	Can tiny bits of cells in the blood help track the progress of spinal muscular atrophy? April 11, 2018 - Dr. Robin Parks was awarded $150,000 from CureSMA to see if tiny bits of cells called exosomes can be used to track how spinal muscular atrophy (SMA) progresses and responds to treatment. SMA is the number one genetic cause of death in infants. Deb
	The Ottawa Hospital awarded $12.7M for research, double the national CIHR success rate January 30, 2018 - Sixteen research groups at The Ottawa Hospital, affiliated with the University of Ottawa, have been awarded $12.7 million in the most recent project grant competition from the Canadian Institutes of Health Research (CIHR). This represents a success r
	Researchers investigate role of immune system in Spinal Muscular Atrophy February 1, 2017 - Surprising new research has found that spinal muscular atrophy, traditionally thought of as a neuromuscular disease, may also affect the immune system. SMA is the number one genetic cause of death in infants, and is caused by the lack of a protein

Researchers

Name	Scientific appointment	Diseases, conditions and populations of interest	Research and clinical approaches
Kothary, Rashmi Ph.D.	Senior Scientist (Regenerative Medicine)	Neuromuscular disease, Amyotrophic lateral sclerosis, Dystonia, Multiple sclerosis, Muscular dystrophy, Spinal muscular atrophy	Basic research, Disease models, Drug development, Epigenetics, Epigenetics, Gene therapy, Genetics, Imaging, Lipidomics, Model organisms, Molecular and cellular biology, Proteomics, Regenerative medicine, Transgenic/knockout models, Translational research
Warman Chardon, Jodi MD, MSc, FRCPC (Neurology)	Associate Scientist (Neuroscience)	Amyotrophic lateral sclerosis, Genetic myopathy, Muscular dystrophy, Neuromuscular disease, Spinal muscular atrophy	Artificial intelligence and data science, Clinical research, Clinical trials, Exome sequencing analysis, Genetics, Imaging, MRI muscle imaging, Next generation sequencing, RNA sequencing, Genetics

Related Resources

Neuromuscular disease research at The Ottawa Hospital