Through their work, the 25 award recipients hope to better understand disease mechanisms, build upon current treatments, advance the identification of new targets — particularly for gene therapies — and improve upon trial design and implementation. Five awards are development grants to scientists at early career stages.
Diseases in addition to SMA being studied include spinal-bulbar muscular atrophy, myotonic dystrophy, mitochondrial myopathy, limb-girdle muscular dystrophy, inclusion body myositis, Friedreich’s ataxia, facioscapulohumeral muscular dystrophy, Duchenne muscular dystrophy (DMD), congenial muscular dystrophy, Charcot-Marie-Tooth (CMT) and amyotrophic lateral sclerosis.
“MDA’s latest group of awards aims to support the most promising research in a variety of neuromuscular diseases,” Lianna Orlando, PhD, interim head of MDA research, said in a press release. “Each funding award will address a key challenge or gap in knowledge and build upon the advances that have taken place in the last several years.”
Highlighted recipients include Arthur Burghes, PhD, a professor of biological chemistry and pharmacology, molecular genetics, and neurology at Ohio State University Wexner Medical Center. He will use his $200,000 two-year award to try to identify genes that modify SMA severity, and the changes in them that cause modification. Such identification could improve a DNA test’s ability to predict disease severity, and to initiate timely treatment. The modifier genes could also become new treatment targets.
Charlotte Sumner, MD, a professor of neurology and neuroscience at Johns Hopkins University School of Medicine, will use her three-year $300,000 grant to investigate the role of mutations in the transient receptor potential vanilloid 4 (TRPV4) gene in distal SMA and CMT. Specifically, Sumner plans to focus on what effect TRPV4 may have on how endothelial cells regulate the blood-nerve barrier, which separates circulating blood from nervous tissue (working much like the blood-brain barrier).
Ashlyn Spring, PhD, a professor at the University of North Carolina at Chapel Hill, will use her three-year $210,000 development grant to study immune dysfunction in SMA. The hope is this work will lead to an understanding of why mutations in the SMN1 gene — which underlie the development of SMA— change how the immune system works, and possibly identify new therapeutic targets.
Visit this site to further explore this round of MDA awards.