MDA Commits $10.7 Million to Neuromuscular Disease Research

MDA has awarded 33 grants to fund research projects aimed at improving understanding of and finding therapies for many of the more than 40 diseases in its program

Article Highlights:
  • MDA’s latest round of research grants, totaling nearly $10.7 million, focuses on finding genetic causes, understanding altered biological processes and pathways, and developing and refining therapies for a number of the diseases in its program.
  • Several of the grants cover general muscle physiology and cell therapies that apply to most of the diseases in MDA’s program. In addition, the new grants fund research into 18 specific diseases.
  • Funding for the grants became effective Aug. 1, 2012. To learn more about the grants, visit MDA's Grants at a Glance slideshow.
by Amy Madsen on August 20, 2012 - 5:55pm

The Muscular Dystrophy Association has awarded 33 new grants totaling $10,684,481 to fund research projects focused on uncovering the causes of, and developing therapies for, neuromuscular disease.

MDA's Board of Directors reviewed and approved the new grants based on recommendations from the Association's Scientific and Medical Advisory Committees, and the grants took effect Aug. 1.

The new grants support the search for causative genetic defects, altered biological processes and pathways, and development and refinement of therapeutic strategies for nearly half of the more than 40 diseases in MDA's research program. Although a number of the projects focus on a single disease, results will have implications for many diseases of muscle and nerve.

To learn more about any of these grants, see the Grants at a Glance slideshow.

Multiple diseases covered

Of the 33 new awards, 29 are research grants meant to support projects designed to answer specific questions about one or more neuromuscular disease. Four grants are development grants, which are designed to increase the number of outstanding scientists working on neuromuscular disease by supporting their research at a critical stage in their careers.

The grants support studies in cell therapies, and general muscle health and function, as well as research into 18 neuromuscular diseases in MDA's program.

Some researchers have goals aimed at a particular disease, or a group of diseases, but all the grants help inform general muscle research and move muscle disease research forward.

Specific topics, multiple hits

In several instances, the grants fund research projects that get at the same topic from different angles.

For example, three new grants are for research focused on the search for specific gene defects that cause some rare forms of congenital muscular dystrophy (CMD), Charcot-Marie-Tooth disease (CMT) and facioscapulohumeral muscular dystrophy (FSHD). Any genes identified may provide targets at which to aim therapies.

Several grants involve the use of autologous adult stem cells for therapies aimed at muscle repair and regeneration. Such cells are derived from a person's own body — for example, from the skin, fat or bone marrow — and coaxed into becoming muscle cells or other desired cell types, then returned to the same person from whom they were taken. Cell-based therapies involving the transplantation of a person's own stem cells instead of cells taken from another source have a greater chance at success, as they are far less likely to trigger an immune system response that could make the body reject the new cells.

A number of grants also are focused on nonmuscle problems in neuromuscular diseases. For example, in Duchenne and Becker muscular dystrophies, researchers are characterizing the details of cognitive and behavioral problems, and also examining the role in fatigue of abnormal regulation of blood flow by nitric oxide.

Disease-specific grants

In acid maltase deficiency (AMD, or Pompe disease)  research, scientists will work on development of a drug that helps gene therapy work better.

Cellular stress responses and nongenetic risk factors are being investigated in amyotrophic lateral sclerosis (ALS) research. (See ALS: New MDA Grants Focus on Multisystem Aspects of the Disease.)

Scientists working on Charcot-Marie-Tooth disease (CMT) will study how defective Schwann cells cause nerve damage; the role of proteins called lamins in normal and diseased muscle; the effects of damage to the cellular-energy producing mitochondria; and genes that cause CMT.

Researchers studying congenital muscular dystrophy (CMD) will be looking at normal and abnormal muscle development; the creation of research models; mechanisms underlying the CMD disease process; and genes that, when mutated, cause CMD.

Researchers who study congenital myasthenic syndromes (CMS) will be working to determine the underlying mechanisms of movement disorders in the disease.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) researchers will be studying "membrane sealant" therapies; stem cell strategies; the role of the gamma-actin protein in muscle degeneration and weakness; the therapeutic potential of a protein called laminin-111 and another called myostatin; how the system of blood vessels known as vasculature affects muscles; genetic correction and muscle regeneration; mechanisms underlying muscle fatigue; and cognitive problems in children with DMD.

In Emery-Dreifuss muscular dystrophy (EDMD), researchers will be looking at LMNA gene mutations and the role of a protein called ensconsin in the disease.

New projects infacioscapulohumeral muscular dystrophy (FSHD) include creating a better mouse model of FSHD; a therapeutic approach based on a strategy called RNA interference; development of a new FSH mouse research model; and the identification of genetic elements that can influence FSHD disease onset.

Investigators will be studying how Schwann cells cause nerve damage (neuropathy) in Friedreich's ataxia

Research in limb-girdle muscular dystrophy (LGMD) will focus on the role of proteins called lamins in both healthy and diseased muscle; the identification of genes that, when mutated, can cause LGMD; the underlying mechanisms of muscle weakness and fatigue; and an enzyme called calpain 3.

"Molecular bypass therapy" will be the focus of research in a mitochondrial myopathy called thymidine kinase 2 (TK2) deficiency.

Scientists working in myasthenia gravis (MG) will be focusing on a potential cell-based therapy involving immune system B cells, and the role of a protein called LRP4 in the disease.

In myotonic muscular dystrophy (MMD or DM), scientists will be working to determine why progressive muscle degeneration occurs, and to identify therapeutic agents that slow the progression of muscle degeneration or otherwise improve muscle health.

An understanding of genetic causes and disease process will be studied by scientists working on nemaline myopathy (NM).

In spinal-bulbar muscular atrophy (SBMA), investigators will be studying a new therapy approach aimed at promoting degradation of the androgen receptor (AR) protein by stabilizing another protein called heat shock protein 70 (Hsp70).

Researchers also will be investigating similarities between CMD, LGMD, BMD/DMD, MTM, NM and collagen disorders.

Supporting new researchers

Four career development grants are included in the 33 new grants. Recipients of this type of grant work in the laboratory of a senior investigator, where each is given the flexibility to work independently or as part of a collaborative effort.

  • Bogdan Beirowski at Washington University in St. Louis is focused on determining how nervous system support cells called Schwann cells lead to nerve-cell damage in CMT.
  • Tathagata Chaudhuri at the University of Pennsylvania in Philadelphia is working on development of a stem cell therapy for muscular dystrophies, including DMD and BMD.
  • David Gokhin at the Scripps Research Institute in La Jolla, Calif., is studying the connection of a protein called gamma-actin to muscle degeneration and weakness in DMD and BMD.
  • Ryan Wuebbles at the University of Nevada School of Medicine in Reno is studying the potential of a protein called laminin-111 as the basis of therapies for DMD and BMD.

Learn more

For up-to-date information on all the latest MDA-funded research projects see Grants at a Glance, a slideshow feature with photos and information on the new MDA grantees and their research, and ALS: New MDA Grants Focus on Multisystem Aspects of the Disease.

To review the approximately 300 active research grants currently being funded by MDA, view this PDF.

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