Identification of modifier gene(s) of spinal muscular atrophy in model mice

'While enhancing SMN as a means to treating SMA is undoubtedly a major development, the therapeutic strategy has its limitations. Indeed, early clinical results and the outcome of studies in model mice have shown that one major caveat stems from the timing of treatment; unless patients are treated shortly after birth, they tend not to benefit.'Narendra Jha, Ph.D., is a Postdoctoral Scientist at Columbia University Medical Center in New York, NY, has been awarded an MDA Development Grant totaling $220,000 for three years to identify factors that mediate the effects of SMN on the neuromuscular system, specifically muscle and nerve.Although there have been therapeutic advances developed to address SMA, there is still a need to better understand the basic biology of SMA. The outcome of Dr. Jha's project will help with two potential discoveries: 1) unravel how low SMN protein can lead to SMA and 2) refined treatments of the disease.