Auinash Kalsotra Awarded MDA Grant for Studying Myotonic Dystrophy
The grant to Prof. Kalsotra provides $300,000 over a three-year period to study the molecular basis for cardiac arrhythmias in Myotonic Dystrophy, a multi-systemic disease that affects about 1 in 8000 people with no cure.
Assistant professor of biochemistry, Auinash Kalsotra, has been awarded a nationally competitive research award from Muscular Dystrophy Association (MDA). Created in 1950, the MDA is the country’s largest private funder of research pursuing cures and treatments for over 40 neuromuscular diseases, including muscular dystrophy, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease (CMT), and Friedreich’s ataxia (FA). The grant to Prof. Kalsotra provides $300,000 over a three-year period to study the molecular basis for cardiac arrhythmias in Myotonic Dystrophy, a multi-systemic disease that affects about 1 in 8000 people with no cure.
“Myotonic dystrophy type I (DM1) is caused by an unusual mutation in which a small DNA segment of the mutated gene is repeated hundreds of times”, said Kalsotra. “The mutated gene, when copied into RNA, becomes toxic and particularly harmful because instead of its normal exit to the cytoplasm, the RNA with repeats gets trapped within the nucleus, which alters the normal function of many genes, not just the gene with the mutation,” he explained.
While the mutation affects multiple tissues, cardiac defects – particularly arrhythmias – are the second leading cause of death amongst DM1 individuals; however, the underlying mechanism(s) responsible remain poorly understood. The Kalsotra laboratory is investigating the disrupted function of a previously unknown RNA binding protein in DM1 cardiac pathogenesis. The team will be using novel CRISPR based mouse models, in vitro cell culture systems, and next-generation sequencing approaches to decipher the exact role of this RNA binding protein in promoting cardiac arrhythmias in DM1.
The mission of the MDA is to build the field of neuromuscular disease research, while simultaneously nurturing clinical care to significantly improve both quality and length of lives for those affected by neuromuscular diseases. MDA annually invests over $40 million on research projects. All grant applications go through a rigorous peer-review process by MDA’s Medical and Scientific Advisory Committees, composed of world-renowned experts in neuromuscular diseases. Each year, about 500 researchers apply to MDA for funding; only the top 10-15% of proposals typically receive support. This puts Prof. Kalsotra in an elite club of neuromuscular disease researchers around the globe who, for more than 60 years, have brought hope to countless individuals.
“The value of MDA research funding cannot be underestimated in making this line of investigation possible in my laboratory. The support of MDA allows us to generate exciting new tools for research and study previously unrecognized pathogenic mechanisms for this debilitating disease, ” said Kalsotra. Prof. Kalsotra holds appointments in the School of Molecular and Cellular Biology and Carl. R. Woese Institute for Genomic Biology at the University of Illinois at Urbana-Champaign.
August 03, 2017 All News