MDA Commits $12 Million to Neuromuscular Disease Research

MDA has awarded 38 grants totaling more than $12 million to support research into general muscle health and more than 15 neuromuscular diseases in its program

Article Highlights:
  • MDA’s latest round of grants, totaling some $12 million, focuses on the underlying causes of neuromuscular disease and finding treatments to slow, stop and reverse damage caused by disease processes.
  • The grants cover general muscle physiology and cell therapies, as well as more than 15 diseases in MDA’s program.
  • Four videos featuring MDA Vice President of Research Sanjay Bidichandani provide more information about the grants and their context in the bigger picture of neuromuscular disease research.
by Amy Madsen on February 1, 2012 - 10:00am

The Muscular Dystrophy Association has awarded 38 new grants totaling more than $12 million to fund research projects focused on its continuing mission to uncover the causes of, and develop therapies for, the more than 40 neuromuscular diseases in its program.

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 Feb. 1.

Recent scientific advances have led to increased funding in promising new areas of research, including development of therapies that not only slow and stop neuromuscular diseases, but also reverse damage caused by the disease processes. The goal in many of the projects is to develop new therapies or to make current therapies better.

“It is exciting that several of these new basic research projects are focused on the development of new therapeutic strategies,” noted MDA Vice President of Research Sanjay Bidichandani.

New research covers more than 15 diseases

Of the 38 new awards, 32 are basic research grants meant to support projects designed to improve understanding of the causes of neuromuscular diseases or guide the development of strategies for their diagnosis and treatment.

These grants support studies in cell therapies and general muscle physiology, as well as research into more than 15 of the neuromuscular diseases in MDA's program: ALS, Becker muscular dystrophy, Charcot-Marie-Tooth disease, congenital muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, inclusion-body myositis, limb-girdle muscular dystrophy, mitochondrial myopathies, myasthenia gravis, myotonic muscular dystrophy, nemaline myopathy, Pompe disease and spinal muscular atrophy.

MDA grants fuel early and advanced research

Areas of focus in Pompe disease (acid maltase deficiency) research include using “pharmacological chaperone” drugs to help enzyme replacement therapy work better; and the use of gene therapy as a second-generation treatment strategy for the disease.

Researchers studying congenital muscular dystrophy (CMD) will be looking at normal and abnormal muscle development; cell therapies for muscle repair; and a combination therapy designed to inhibit inflammation and muscle scarring, and improve muscle regeneration.

Scientists working on Charcot-Marie-Tooth disease (CMT) will determine the effects of mutations in the copper transport gene ATP7A and the connexin 32 protein.

Defective muscle structure and the role of aggregates (clumps of proteins) will be studied by scientists working on nemaline myopathy (NM) and inclusion-body myositis (IBM).

In limb-girdle muscular dystrophy (LGMD) research, scientists will be studying the roles of a protein called dysferlin and cell-death changes in the disease process.

Scientists working on myotonic muscular dystrophy (MMD or DM) will be screening approximately 850,000 compounds and then testing them in mouse models to determine any therapeutic value.

New projects in facioscapulohumeral muscular dystrophy (FSH or FSHD) include the development of a new FSHD mouse research model; identification of genetic modifiers of the DUX4 gene (which is implicated in the disease); and uncovering the defect underlying type 2 FSHD.

In Emery-Dreifuss muscular dystrophy (EDMD) researchers will investigate the potential of cell therapies to reverse muscle atrophy and strengthen skeletal muscle.

The role of connexin protein mutations and the potential for gene therapy is being studied in myasthenia gravis (MG).

Researchers will investigate the potential of drugs called beta agonists for use in therapies for mitochondrial myopathies (MITO)

In spinal muscular atrophy (SMA), investigators will be searching for modifier genes (genes that affect other genes); creating new research mouse models and testing new delivery methods for gene therapies.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) researchers will be investigating stem cell transplantation as a therapeutic strategy; the potential for successful therapies based on a muscle protein called utrophin; normal and abnormal skeletal muscle development; improvement of exon skipping and gene therapy as treatments; and small-molecule drug therapies.

Various strategies aimed at stopping the degeneration and death of motor neurons (nerve cells) are being investigated in ALS (amyotrophic lateral sclerosis or Lou Gehrig’s disease). (See MDA Awards $2 Million in ALS Grants.)

Supporting new researchers

Six career development grants are included in the 38 new grants. These grants are designed to increase the number of outstanding scientists working on neuromuscular disease research. Awardees work in the laboratory of a senior investigator; each is given the flexibility to work independently or as part of a collaborative effort.

Those who were awarded development grants are:

  • Tomoyuki Awano at Columbia University Medical Center in New York, whose research is focused on searching for genes that modify the onset and disease course of SMA;
  • Celine Baligand at the University of Florida College of Medicine in Gainesville, who is working to develop imaging tools that will help researchers develop therapies for muscle diseases including Pompe disease.
  • Darin Falk at the University of Florida in Gainesville, who will study the potential for gene therapy as a next-generation treatment for Pompe disease;
  • Andrew Ho at Stanford School of Medicine in Stanford, Calif., who will research stem-cell-based therapies in DMD;
  • Vladimir Ljubicic at the University of Ottawa in Ontario, Canada, who is working on therapeutic strategies involving the muscle protein utrophin in DMD; and
  • Kentaro Sahashi at the Cold Spring Harbor Laboratory in Cold Spring Harbor, N.Y., whose focus is on the potential for the use of synthetic molecules called antisense oligonucleotides in SMA.

Find out more about MDA-funded research projects

All of the projects funded by the new grants will help scientists uncover mechanisms that drive normal and abnormal muscle development and health, as well as the underlying causes of neuromuscular diseases. Researchers are undertaking their projects with therapy development in mind.

For more detailed information about these new grants, visit Grants at a Glance, a slideshow feature with photos and information on the new MDA grantees and their research.

For information on the approximately 300 active research grants currently supported by MDA, view this PDF.

Video: MDA Vice President of Research Sanjay Bidichandani provides a brief answer to the question, "What is it about basic research that families need to understand?"

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