FOUR MDA GRANTS IN 10 YEARS: SAN DIEGO RESEARCHER SEEKS TREATMENT FOR SBMA & OTHER MOTOR NEURON DISEASES

TUCSON, Ariz., August 18, 2010 — Two decades ago, while still an M.D.-Ph.D. student in the laboratory of Muscular Dystrophy Association grantee Kenneth Fischbeck, Albert La Spada discovered the genetic flaw at the root of spinal bulbar muscular atrophy (SBMA), a rare and debilitating disease that causes muscle weakness, primarily in men.

The discovery turned out to be even more significant than La Spada had initially imagined.  “What was so exciting was the discovery I made defined a whole new type of genetic mutation,” he explained. The genetic defect was among the first of a class of mutations termed “trinucleotide repeat expansions,” which are now known to cause many diseases, including Huntington’s disease, myotonic dystrophy, fragile X syndrome and Friedreich’s ataxia.

Albert La Spada

MDA has awarded La Spada a new three-year grant for $330,000 to continue his research on SBMA (also known as Kennedy disease). This is Dr. La Spada’s fourth MDA grant in 10 years, bringing the Association’s total investment in his research to $1.2 million. 

Now at the University of California San Diego, Dr. La Spada concentrates his studies on how neurons degenerate and why the degeneration is restricted to certain cell types in different diseases. His wish, he says, is to “understand why motor neurons are dying’’ in spinal-bulbar muscular atrophy (SBMA), a progressive disease that weakens limb muscles (especially legs) and muscles involved in talking, chewing and swallowing.

Dr. La Spada is one of 38 research leaders receiving new multiyear awards from MDA. His project is part of the $14.1 million in new research funding approved during the Association’s July Board meeting.

He said the new study “will determine the biology of motor neurons faced with proteotoxic and hypoxic stress, and could uncover molecules and pathways that are important for neuronal health. Such information could be used to guide therapy development for motor neuron diseases." 

“MDA funding has been critical in allowing us to aggressively pursue cutting-edge research approaches in our lab," Dr. La Spada added. “MDA was the first organization from which I received funding for work on motor neuron disease. Without MDA, there is no way we would have made all the progress we did over the last decade."

“Insights from this project could ultimately result in new therapies for a number of motor neuron diseases, including spinal-bulbar muscular atrophy, ALS and spinal muscular atrophy," said Valerie Cwik, M.D., MDA executive vice president for research and medical director.
Research grant applications are peer-reviewed twice yearly MDA’s Medical and Scientific Advisory Committees, comprised of world-renowned experts in neuromuscular disease research.  The most promising of some 500 applications received each year are recommended for funding to the MDA Board of Directors.

According to R. Rodney Howell, M.D., chairman of the MDA Board of Directors, “Generous Americans responding to the annual Jerry Lewis MDA Telethon, and to thousands of other special events benefiting the families served by MDA, deserve much of the credit for the rapid progress being made toward treatments for neuromuscular diseases.  It’s their strong belief in MDA’s capable stewardship of public funds that’s enabling so much to be accomplished — even in a sluggish economy.”

Often credited for its leadership in building the field of neuromuscular disease research, MDA has simultaneously enhanced clinical care for individuals affected by muscle disorders, achieving important quality of life and longevity gains.  The Association, which has invested almost $39 million in 2010 in   research worldwide, is the first nonprofit to earn a Lifetime Achievement Award from the American Medical Association (“for significant and lasting contributions to the health and welfare of humanity”). 

MDA-funded scientists have uncovered the genetic defects that cause several forms of muscular dystrophy; Charcot-Marie-Tooth disease (CMT); a form of amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease); childhood spinal muscular atrophy (SMA) and other neuromuscular conditions. Now entering a period of increasing numbers of clinical trials of potential therapeutics, the Association’s network of approximately 200 hospital-affiliated clinics is instrumental in identifying appropriate candidates for clinical trials; and to help refine outcome measures for those clinical trials.

More than 1 million people in America are affected by neuromuscular diseases.

Residents of the San Diego area who are affected by any of the more than 40 muscle diseases in MDA’s program can receive excellent medical care at the MDA Clinic at Rady Children’s Hospital.  

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education. For more information on MDA research and programs, go to www.mda.org. 

For more information about these new grants, visit MDA's "Grants at a Glance," an online slideshow that showcases each grant with photos and detailed information.