DMD – Donghoon Lee, Ph.D.

Donghoon Lee, a research associate professor in the department of radiology at the University of Washington in Seattle, was awarded an MDA research grant totaling $300,000 over three years to develop imaging biomarkers for Duchenne muscular dystrophy (DMD). Lee will develop noninvasive magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) methodologies that reflect specific . . .

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DD – Aikaterini Kontrogianni-Konstantopoulos, Ph.D.

Aikaterini Kontrogianni-Konstantopoulos, an associate professor in the department of biochemistry and molecular biology at the University of Maryland School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to study how the Myosin Binding Protein-C family of proteins may regulate contractile function of skeletal muscle in distal muscular dystrophy . . .

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CMT – Robert Burgess, Ph.D.

Robert Burgess, a professor at The Jackson Laboratory in Bar Harbor, Maine, has been awarded an MDA research grant totaling $300,000 over three years. Burgess and co-investigator Scott Harper, associate professor at Nationwide Children’s Hospital Center for Gene Therapy in Columbus, Ohio, will test an AAV gene therapy approach to specifically block the altered form . . .

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CMS – Ricardo Maselli, M.D.

Ricardo Maselli, a professor in the neurology department at the University of California Davis was awarded an MDA research grant totaling $300,000 over three years to test whether transplantation of stem cells engineered to secrete a needed protein could be a beneficial treatment strategy in congenital myasthenic syndromes (CMS). If studies in a mouse model are . . .

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CMD – Liza Pon, Ph.D.

Liza Pon, professor of pathology and cell biology at Columbia University in New York was awarded an MDA research grant totaling $300,000 over three years to study the underlying mechanisms at work in CHKB congenital muscular dystrophy (CMD). Pon also will test whether therapies that promote function of a protein known as the ryanodine receptor . . .

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CCD – Montserrat Samso, Ph.D.

Montserrat Samso, assistant professor in the department of physiology at Virginia Commonwealth University in Richmond, was awarded an MDA research grant totaling $300,000 over three years to generate a crystal structure of the ryanodine receptor (RyR1), an intracellular calcium channel, at high resolution and in different conformational states, with and without disease-causing mutations, to allow . . .

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ALS – Jeffrey Rothstein, M.D., Ph.D.

Jeffrey Rothstein, professor of neurology and neuroscience at Johns Hopkins University School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Rothstein will use ALS patient-derived stem cells to investigate the role of . . .

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ALS – Gary Armstrong, Ph.D.

Gary Armstrong, a senior post-doctoral researcher at Université de Montréal in Quebec, Canada, was awarded a development grant totaling $177,670 over three years to further understanding of the synaptic defects that occur in ALS (amyotrophic lateral sclerosis). Abnormalities arising at the neuromuscular junction occur early in animal models of the disease and very little is . . .

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Five Questions with SBMA Researcher Diane Merry

Diane Merry, associate professor at Thomas Jefferson University in Philadelphia, is working to identify therapeutic opportunities to promote normal androgen receptor function while preventing the toxic effects of polyglutamine expansion in spinal-bulbar muscular atrophy (SBMA). With GlaxoSmithKline, Merry will test small molecule compounds that activate an enzyme called SIRT1 in cell and mouse models of . . .

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Five Questions with FSHD Researcher Antoine de Morrée

Antoine de Morrée, a postdoctoral scholar at Palo Alto Veterans Institute for Research and Stanford University in Palo Alto, Calif., is testing a way to stop muscles from making toxic DUX4 protein as a possible treatment forfacioscapulohumeral muscular dystrophy (FSHD). The goals of de Morrée’s work are to understand how cells make stabile RNA messages, . . .

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