Dr. Rashmi Kothary and his team have discovered a promising new approach for developing treatments for Spinal muscular atrophy

June 2, 2010

Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by mutation in the SMN gene which is fundamental for motor neuron function and survival. Motor neurons are specialized cells that reside within the spinal cord of all vertebrates, including humans. Their long projections (called axons) stretch from the central nervous system into our muscles, allowing movement. Motor neurons lacking the SMN gene progressively die, and this leads to muscle weakness and atrophy of muscle tissue. Unfortunately, current treatments for SMA are limited; however the scientific community is making tremendous progress. In particular, Dr. Rashmi Kothary’s team found that SMA mice survive longer and show significant improvements in their neuromuscular system when treated with a particular compound called Y-27632. The results of his research were published this year in the journal Human Molecular Genetics.

When asked about how far we are from an actual treatment for SMA, Dr Kothary says: “These results are very promising and in the near future we should be able to bring our research to a clinical trial phase and hopefully soon thereafter we will be in a position to offer SMA patients a definitive treatment therapy”. His research is particularly interesting because instead of replacing the defective gene, a process which is often very challenging, it offers the easier alternative of a drug-based therapy.

Dr. Kothary is now a Senior Scientist at the Ottawa Hospital Research Institute, but his passion for research dates back to his childhood, when he enjoyed disassembling radio and electrical equipment to find out what was inside.

As American physicist F. Seitz once said, “A good scientist is a person in whom the childhood quality of perennial curiosity lingers on. Once he gets an answer, he has other questions.”

Dr. Kothary was originally fascinated by physics, but his interest then led towards biology, biochemistry, embryology research and ultimately neuromuscular disorders. The versatility of his education was the key to acquiring different expertise and skills that allowed him to examine the same problem from different angles. An open mind, collaborative attitude, hard work, and excellent mentors helped shaped the successful career of Dr. Kothary.

Dr. Kothary is also an Associate Scientific Director at the Ottawa Hospital Research Institute. He holds the University Health Research Chair in Neuromuscular Disorders and is a Professor at the University of Ottawa.

He is actively involved in supporting patients affected by neuromuscular disorders. Indeed, he participates together with his lab members in public events such as the annual Multiple Sclerosis walk and Multiple Sclerosis open forum by opening his lab to patients and their families. His research has been funded for more than 20 years by agencies such as the Muscular Dystrophy Association, the MS Society of Canada and the Canadian Institutes of Health Research.

To learn more about Dr. Kothary’s multifaceted research, please see his profile at or see this press release about his most recent discovery.

By Alessandra Pasut