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Muscular Dystrophy Association Awards 25 Grants Totaling More Than $6.6 Million for Neuromuscular Disease Research

Critical funding provided by MDA will support studies to further understand disease mechanisms, optimize and build upon existing therapies, and advance drug target identification, especially toward gene-targeted therapies -- research that will have translational and clinical application across many neuromuscular diseases

NEW YORK, Sept. 5, 2019 /PRNewswire/ -- The Muscular Dystrophy Association (MDA) announced today the awarding of 25 new MDA grants totaling more than $6.6 million toward research focused on a variety of neuromuscular diseases (NMDs), including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), congenital muscular dystrophy (CMD), Duchenne muscular dystrophy (DMD), facioscapulohumeral muscular dystrophy (FSHD), Friedreich's ataxia (FA), inclusion body myositis (IBM), limb-girdle muscular dystrophy (LGMD), mitochondrial myopathy, myotonic dystrophy (DM), spinal-bulbar muscular atrophy (SBMA), and spinal muscular atrophy (SMA). This round of grant funding reinforces MDA's unwavering commitment to the progress of neuromuscular disease research and builds on the more than $1 billion MDA has already invested in research to uncover new treatments and cures for NMDs since its inception.

"MDA's latest group of awards aims to support the most promising research in a variety of neuromuscular diseases," says Lianna Orlando, PhD, interim head of research. "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."

Answering research questions to speed therapy development

The newly funded projects will aim to advance research discoveries and new therapy development in multiple areas. The awarded grants will fund studies to further advance our understanding of the causes of NMDs, investigate new approaches to developing treatments and therapies, and improve how clinical trials are designed and implemented.

MDA is also committed to developing a cadre of promising early-stage scientists who will make the important discoveries of the future. Therefore, this latest round of funding includes five development grants awarded to investigators at the beginning of their careers and who are on the brink of becoming independent investigators, along with the 20 other research grants awarded to established, independent investigators.

For a complete list of individual awards for this grant cycle, visit MDA's website and explore the Grants at a Glance section

Highlights from the awards for this grant cycle include:

Arthur Burghes, PhD, professor of Biological Chemistry and Pharmacology, Molecular Genetics, and Neurology at The Ohio State University Wexner Medical Center in Columbus, was awarded an MDA research grant totaling $200,000 over two years to study genes that might have the potential to modify the severity of SMA. These genes may potentially become novel therapeutic targets.

Monkol Lek, PhD, assistant professor of Genetics at Yale University School of Medicine in New Haven, Conn., was awarded an MDA research grant totaling $300,000 over three years to improve the clinical interpretation of rare genetic variants identified in LGMD and CMD. Dr. Lek will use genome editing and a high-throughput assay to interpret the effect of these rare mutations in cells.

Bradley Olwin, PhD, professor of Molecular, Cellular, and Developmental Biology at the University of Colorado Boulder, was awarded an MDA research grant totaling $300,000 over three years to study the regulation of TDP-43 protein aggregates in normal and diseased skeletal muscle. Over the past decade, the role of TDP-43 aggregation in nerve cells in some NMDs has become increasingly clear. In 2018, Dr. Olwin published work indicating TDP-43 had important roles in muscle cells as well. This current grant funding will allow Dr. Olwin to build upon that novel work and study the dynamics of TDP-43 myogranules in the context of NMDs such as IBM.

Charlotte Sumner, MD, 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 study the role of mutations in the transient receptor potential vanilloid 4 gene (TRPV4) in causing one type of CMT and distal SMA. Dr. Sumner will focus on the role that TRPV4 — a readily druggable therapeutic target — may play in endothelial cells regulating the blood-nerve barrier.

Davide Trotti, PhD, professor of Neuroscience at Thomas Jefferson University in Philadelphia, was awarded an MDA research grant totaling $300,000 over three years to investigate the mechanism by which the toxic C9ORF72 gene mutations in C9ORF72-ALS contribute to the degradation of the neuromuscular junction using rodent and patient induced pluripotent stem cell models.

Courtney Young, PhD, CEO of MyoGene Bio LLC in Los Angeles, was awarded an MDA research grant totaling $299,592 over three years to assess the immune response to repeated dosing of adeno-associated virus (AAV) because AAV is used for most current gene-replacement and gene-editing therapy approaches. Dr. Young and team have developed a DMD gene-editing therapy using CRISPR/Cas9 aimed at improving the production of dystrophin, of which there is little to none made in people with DMD. Using humanized DMD mice, she will characterize the adaptive immune response to single and repeated exposures of AAV-CRISPR.

The total list of grant awards for this cycle includes:

ALS

Sandrine Da Cruz, PhD
Ludwig Institute for Cancer Research, San Diego
Research grant, $300,000
Mechanisms and therapy underlying FUS-mediated ALS disease

Jone Lopez Erauskin, PhD
Ludwig Institute for Cancer Research, San Diego
Development grant, $210,000
Mechanisms of maintenance and regeneration of neuromuscular junctions in ALS

Jeffrey D. Rothstein, MD, PhD
Johns Hopkins University School of Medicine
Research grant, $300,000
Mechanism of cell-specific injury in C9ORF72-ALS and frontotemporal dementia (FTD)

Davide Trotti, PhD
Thomas Jefferson University, Philadelphia
Research grant, $300,000
Neuromuscular synapse is a target of dipeptide repeat proteins in C9ORF72-ALS

Charcot-Marie-Tooth disease (CMT)

Gerald W. Dorn, II, MD
Washington University School of Medicine, Mitochondria in Motion, Inc.
Research grant, $267,942
Mitofusin agonists to treat Charcot-Marie-Tooth disease

Charlotte Sumner, MD
Johns Hopkins University School of Medicine
Research grant, $300,000
A key role for TRPV4 in neurodegeneration via control of the blood-nerve barrier

Congenital muscular dystrophy (CMD)

Dean Burkin, PhD
University of Nevada School of Medicine, Reno
Research grant, $300,000
Laminin-enhancing small molecule for congenital muscular dystrophy

Duchenne muscular dystrophy (DMD)

Peter Currie, PhD
Monash University, Australia
Research grant, $295,614
Correcting muscle stem cell dynamics in Duchenne muscular dystrophy

James Ervasti, PhD
University of Minnesota, Twin Cities
Research grant, $300,000
Mechanical characterization of dystrophin

Michael Hicks, PhD
University of California, Los Angeles
Development grant, $210,000
Modulation of the DMD microenvironment and satellite cell niche to support muscle stem cells

Changwon Kho, PhD
Icahn School of Medicine at Mount Sinai, New York
Research grant, $300,000
SUMO as a therapeutic target for muscular dystrophy

Courtney Young, PhD, CEO
MyoGene Bio LLC, Los Angeles
Research grant, $299,592
Assessment of the immune response to repeat dosing of AAV-CRISPR in Duchenne

Facioscapulohumeral muscular dystrophy (FSHD)

Yi-Wen Chen, DVM, PhD
Children's Research Institute (CNMC), Washington, DC
Research grant, $200,000
Developing 2'MOE-based therapy for facioscapulohumeral muscular dystrophy

Friedreich's ataxia (FA)

Jordi Magrane, PhD
Weill Cornell Medical College
Research grant, $300,000
Cell and non-cell autonomous effects of frataxin deficiency in FA pathophysiology

Inclusion body myositis (IBM)

Thomas Lloyd, MD, PhD
Johns Hopkins University School of Medicine
Research grant, $300,000
Accelerating regeneration in a xenograft model of inclusion body myositis

Bradley Olwin, PhD
University of Colorado Boulder
Research grant, $300,000
Regulation of TDP-43 aggregates in normal and diseased skeletal muscle

Limb-girdle muscular dystrophy (LGMD)

Martin Childers, PhD, DO, Chief Medical Officer
Asklepios BioPharmaceutical, Inc., North Carolina
Research grant, $192,500
AAV gene transfer clinical development for LGMD2I

Mitochondrial myopathy

Antonio Barrientos, PhD
University of Miami Miller School of Medicine
Research grant, $300,000
Copper delivery to COX1: mechanism, tissue specificity, and mitochondrial disease

Myotonic dystrophy (DM)

Melissa Hinman, PhD
University of Oregon at Eugene
Development grant, $210,000
Using zebrafish to understand and treat myotonic dystrophy digestive phenotypes

Spinal-bulbar muscular atrophy (SBMA)

Alireza Mashaghi Tabari, PhD
Leiden University, The Netherlands
Research grant, $300,000
Single molecule folding studies on the mutant androgen receptor underlying SBMA

Spinal muscular atrophy (SMA)

Arthur Burghes, PhD
The Ohio State University Wexner Medical Center
Research grant, $200,000
Identification of modifiers of the SMA phenotype

Ashlyn Spring, PhD
University of North Carolina at Chapel Hill
Development grant, $210,000
Unraveling mechanisms and consequences of immune dysfunction in SMA

Multiple NMDs

Monkol Lek, PhD
Yale University School of Medicine
Research grant, $300,000
Improved clinical interpretation of rare variants in muscle diseases

Wolfgang Pernice, PhD
Columbia University Medical Center
Development grant, $210,000
Morphological profiling for rapid variant annotation in neuromuscular conditions

Damiano Zanotto, PhD
Stevens Institute of Technology, New Jersey
Research grant, $200,000
Wearable technology to assess gait function in SMA and DMD

About the Muscular Dystrophy Association

MDA is committed to transforming the lives of people affected by muscular dystrophy, ALS, and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's MOVR is the first and only data hub that aggregates clinical, genetic, and patient-reported data for multiple neuromuscular diseases to improve health outcomes and accelerate drug development. MDA supports the largest network of multidisciplinary clinics providing best-in-class care at more than 150 of the nation's top medical institutions. Our Resource Center serves the community with one-on-one specialized support, and we offer educational conferences, events, and materials for families and healthcare providers. Each year thousands of children and young adults learn vital life skills and gain independence at MDA Summer Camp and through recreational programs, at no cost to families. For more information visit mda.org.

SOURCE: Muscular Dystrophy Association