MDA awarded 40 new grants aimed at uncovering the underlying molecular causes of, and developing therapies for, many of the diseases in its program
The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.
The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.
"We're especially pleased to be able to award these research grants at a time when government and private funding for neuromuscular disease research is especially difficult to obtain," said neurologist Valerie Cwik, MDA medical director and executive vice president for research. “Despite the economy, MDA’s commitment to supporting cutting-edge research remains unwavering.”
Of the 40 new grants, 33 are primary research grants, meant to improve understanding of the causes of neuromuscular diseases or guide the development of strategies for their diagnosis and treatment. These grants are given to established investigators.
In addition, seven awards are career development grants, 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.
The 40 new awards will support research in 22 specific diseases in MDA's program, including: amyotrophic lateral sclerosis, Becker muscular dystrophy, central core disease, centronuclear/myotubular myopathies, Charcot-Marie-Tooth disease, congenital muscular dystrophy, congenital myasthenic syndromes, distal muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, Friedreich's ataxia, inclusion-body myositis, Lambert-Eaton myasthenic syndrome, limb-girdle muscular dystrophy, mitochondrial myopathies, myasthenia gravis, myotonia congenita, myotonic muscular dystrophy, periodic paralysis, spinal-bulbar muscular atrophy and spinal muscular atrophy.
In addition, several awards may apply to multiple diseases in MDA's program, because they support research on nerve or muscle physiology, nerve or muscle disease in general, muscular dystrophies in general or stem cells.
Information on a few of the 40 grants awarded by MDA is listed below. To see information on all the new grants, visit MDA's Grants at a Glance slideshow.
Cardiac treatments in Becker and Duchenne muscular dystrophies (BMD and DMD): MDA awarded $480,000 over three years to Martin Childers at the Institute for Regenerative Medicine in Winston-Salem, N.C., to help support Childers' research to find new treatments for the heart abnormalities that occur in BMD and DMD.
After "reprogramming" skin cells from people with DMD, Childers and colleagues will create heart cells that reflect the damage seen in DMD. They will use these cells to screen thousands of potentially therapeutic compounds to see if they're beneficial in these reprogrammed cells.
Increasing utrophin as a substitute for dystrophin in BMD/DMD: MDA awarded $379,500 over three years to Tejvir Khurana at the University of Pennsylvania to help support Khurana's research to increase cellular production of utrophin, a protein that may improve muscle strength and function in DMD and BMD. Utrophin has been shown to substitute, at least in part, for dystrophin, the protein that's missing in DMD and partially functional in BMD.
Khurana's strategy for increasing utrophin production is based on removing a biological "brake" that otherwise would limit its production.
Given that utrophin is a naturally occurring protein that exists in a normal form in people with DMD and BMD, it is unlikely that it would be rejected by patients' immune systems.
Improving bone health in DMD: MDA awarded $268,021 over two years to Margaret Zacharin at Royal Children's Hospital in Parkville, Victoria, Australia, to help support a clinical trial of the drug zoledronic acid in children and adolescents with DMD. Zacharin and colleagues will test this medication, a bisphosphonate that prevents bone loss in osteoporosis, to see if it can improve bone health.
In people with DMD, bone density is lost in part because of the underlying disorder and in part because of the side effects of corticosteroid medications, such as prednisone, which are used to treat it. The zoledronic acid strategy, if successful, would considerably improve the benefit-to-side effect ratio for corticosteroids in DMD.
Turning off a turned-on gene: MDA awarded $375,000 over three years to Michael Kyba at the Lillehei Heart Institute and Department of Pediatrics at the University of Minnesota in Minneapolis to help support his research to identify and test experimental therapies in FSHD.
The goal of Kyba's research is to inhibit the action of a gene called DUX4, which was recently shown to be abnormally "turned on" in this disease. Kyba and colleagues will develop mice carrying the activated DUX4 gene and then plan to test inhibitors of DUX4 in these mice. Promising leads for FSHD therapy may be identified.
Studying diabetes in FA: MDA awarded $202,222 over two years to David Lynch at Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine to help support Lynch's research on the relationship between FA and diabetes.
Up to 30 percent of people with FA develop diabetes, but the underlying mechanism for this phenomenon, which could shed new light on several aspects of FA, remains unknown.
Lynch and colleagues will investigate various genes to see whether they contribute to FA-associated diabetes.
Identifying the genetic causes of rare forms of SMA: MDA awarded a grant totaling $387,228 over three years to Lisa Baumbach at the University of Miami's Miller School of Medicine to help support her research on genes that can cause rare forms of SMA.
Mutations in the SMN1 gene on chromosome 5 are the most common cause of SMA, but Baumbach's team previously identified abnormalities in the X-chromosome gene UBE1 as another cause of SMA.
Baumbach and colleagues will now search for additional SMA-causing and SMA-modifying genes.
Those who were awarded development grants include:
For more information about new MDA grants for amyotrophic lateral sclerosis, see MDA Awards More Than $2.5 Million in Grants to Stop ALS.
To learn more about all the latest MDA-funded research projects, see Grants at a Glance.
To review all of the approximately 300 grants currently being funded by MDA, see All Active Research Grants.