Cure SMA Awards $100,000 Grant to Rashmi Kothary, Ph.D., Ottawa Hospital Research Institute

This article is part of a series of Cure SMA grant announcements being shared throughout the winter/spring.

Cure SMA and Cure SMA Canada have awarded a $100,000 research grant to Rashmi Kothary, Ph.D., at the Ottawa Hospital Research Institute, for his project titled, “Characterization of canonical disease features in a novel mouse model of SMA Type 3 and 4.”

Dr. Kothary and his team believe that current SMA research has extensively studied SMA features in very severe SMA mouse models with limited lifespans. Very few mild models of SMA are available and characterization of less severe SMA (Type 3/4) has been limited. Mild SMA has been challenging to model in mice for reasons that are not altogether clear. Therefore, a clear need exists in the field for a model to study milder forms of SMA.

Dr. Kothary has developed a novel SMA mouse model that presents with a nearly normal lifespan and display features of mild SMA. With this, he will seek to further characterize features of SMA in this mouse model to inform us on the role of SMN during aging and adult life.

Meet Dr. Kothary

Tell us about yourself?

I am a Senior Scientist and the Deputy Scientific Director at the Ottawa Hospital Research Institute. We use preclinical mouse models of SMA to better understand the pathogenesis of this disorder.

How did you first become involved with SMA research?

My introduction to SMA research was in 1999, when Dr. Christine DiDonato joined my laboratory as a postdoctoral fellow. She had the SMA genetics expertise and we had the mouse modeling expertise. Together, we worked on generating a novel mouse model of SMA that we have used to get a better understanding of the multi-system nature of the disorder. Our unique mouse model is also used by several other laboratories throughout the world.

What is your current role in SMA research?

We are exploring the multi-system nature of SMA. Specifically, we are studying metabolic defects, as well as potential neuroinflammatory aspects of the disease. More recently, we have developed a mouse model of mild SMA.

What do you hope to learn from this research project?

This study aims to characterize our recently developed novel mouse model of mild SMA. We will complete the basic characterization of traditional SMA features, such as neuromuscular junction pathology, EMG, MUNE, and CMAP. In addition, exercise challenges will be performed to understand the ability of SMN-depleted mice to withstand various types of physical exertion and fatigue. Importantly, this will inform us on the role of SMN in maintenance of the motor unit during adult life and allow us to better model SMA Type 3 and 4.

How will this project work?

We will take advantage of a new mild mouse model of SMA that has been generated in our laboratory.

What is the significance of your study?

A mouse model of mild SMA will allow for better characterization of molecular changes within skeletal muscle and motor neurons, and to determine whether these differ in any way to those identified in the models of more severe SMA. The proposed studies will substantially inform the biology and treatment of mild SMA.

About Cure SMA’s Basic Research Funding

This basic research grant to Dr. Kothary is being funded by Cure SMA Canada. Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

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