MDA Awards $6.6M to Scientists Working in SMA, Other Neuromuscular Diseases

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by Mary Chapman |

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SMA Europe conference

Some $6.6 million in new Muscular Dystrophy Association (MDA) multiyear grants will support promising studies in an array of neuromuscular disorders, including spinal muscular atrophy (SMA).

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.

Damiano Zanotto, a PhD with Stevens Institute of Technology, will use a two-year $200,000 award to evaluate the potential of wearable technology in assessing gait function in SMA and DMD.

Visit this site to further explore this round of MDA awards.