Cure SMA has awarded a $50,000 research grant to Rashmi Kothary, PhD, at the University of Ottawa, for his project, ” The shifting landscape of SMA research: towards a better understanding for a role for SMN in aging.”
In this proposal, Dr. Kothary and his team seek to explore the role of SMN protein in aging. Recent advances in SMA research, such as the FDA approval of Spinraza, are likely to increase lifespan and dampen SMA motor symptoms, leading to a shift of the severe infantile SMA patient population towards a milder SMA adult patient population. Such lifespan extension may reveal new, previously unknown issues arising with age in SMA.
Dr. Kothary and his team recently generated a new mouse model that will allow for the investigation of whether defects related to SMN-depletion occur during aging. Furthermore, challenging this new model in different conditions such as exercise or diet will reveal whether some subclinical defects might be present in aged SMN-depleted tissues. Altogether, this study will shed light on future potential obstacles that may be faced by SMA patients receiving an SMN-upregulating therapy. Being proactive in understanding such impairments will ensure timely development of additional therapeutics and ensure sustained quality of life for SMA patients throughout their lifespan.
Meet Dr. Kothary
Who are you?
My name is Rashmi Kothary and I am the Deputy Scientific Director at the Ottawa Hospital Research Institute. My lab develops mouse models of SMA and we use them for preclinical studies.
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 uses to get a better understanding of the multi-organ nature of the disorder.
What is your current role in SMA research?
We are exploring the multi-organ nature of SMA. In particular, we are studying the potential of immune function problems.
What do you hope to learn from this research project?
This study will expand our understanding on defects that are present in less severe SMA patients (Type IV), and inform us about possible defects that may arise during aging in both the motor unit compartment and in non-neuronal organs.
How will this project work?
We will take advantage of a new mild mouse model of SMA that has been generated in our laboratory to perform these studies.
What is the significance of your study?
The proposed studies will help us to gain insight into several aspects of canonical SMA features in addition to non-neuronal and muscle defects seen during aging in a SMA context. This is particularly important as underlying defects may be masked by the current short lifespan of untreated SMA patients and could arise later in life. Therefore, as SMA type IV or SMA treated patients age, they may still be inflicted with findings in neuronal or non-neuronal compartments. Being proactive in understanding such impairments will ensure timely development of additional therapeutics.
Basic Research Funding
This grant to Dr. Kothary is being co-funded through Cure SMA – Canada and is part of $1,325,000 in new basic research funding that we’re currently announcing.
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.