MEMPHIS RESEARCHER AWARDED $180K MDA GRANT TO PURSUE INTRIGUING ALS STUDIES

TUCSON, Ariz., Aug. 18, 2010—ALS, or Lou Gehrig’s disease, is a devastating neuromuscular disease for which there is no effective treatment.  Recently, however, researchers found what may be the elusive key to unlocking the secret cause of this cruel disease.  They discovered that mutations in a protein called TDP-43 are present in both sporadic and familial forms of ALS.  So far, though, they don’t know what those mutations do. 

Freibaum

That’s precisely the question Brian Freibaum, Ph.D., of St. Jude Children’s Research Hospital in Memphis, is working to answer.  For his investigation, Freibaum has been awarded a $180,000 research grant from the Muscular Dystrophy Association.  The research also may yield valuable insights into Huntington’s and Parkinson’s diseases, as well as inclusion body myopathy with Paget’s disease of bone and frontotemportal dementia (IBMPFD) – all conditions associated with TDP-43 primary TDP-43 pathology.

“Finding out how mutations in TDP-43 lead to ALS is probably one of the most important questions, if not the most important question, in the ALS field,” Freibaum said.  The three-year grant is part of $14.1 million in new research funding approved at the Association’s July board meeting. ALS causes progressive weakness of all voluntary muscles, usually affecting arms, legs and or muscles first.  Survival rarely exceeds five years after diagnosis.

“TDP-43 has puzzled researchers ever since this mysterious protein was discovered ‘at the scene of the crime’ several years ago,” said Stanley H. Appel, M.D., chairman of the MDA Medical Advisory Committee, and himself a pioneer in the area of ALS research.  “Now, Dr. Freibaum is launching a full-scale ‘crime scene investigation’ to nail down TDP-43’s role in ALS.  This comprehensive detective work will not only give us a deeper understanding of the causes of ALS, but could very well reveal entirely new drug targets for fighting the disease.”

Research grant applications are peer-reviewed twice yearly by MDA’s Medical and Scientific Advisory Committees, comprising 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 towards 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.”

Freibaum sees MDA’s role in funding ALS research as pivotal in the search for a cure.  “MDA funding of ALS research is extremely important to speed the discovery of treatments and cures for ALS and other diseases,” he said.

Often credited for its leadership in building the field of neuromuscular disease research, MDA has also 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 Tennessee who are affected by any of the more than 40 muscle diseases covered by MDA can receive excellent medical care at the MDA Clinics at University of Tennessee Medical Center in Knoxville; Wesley Neurology Clinic in

Memphis; the MDA/ALS Center of Memphis Mid-South in Memphis; and Vanderbilt University Medical Center in Nashville.

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research (see outstanding B-roll of MDA research at http://www.mda.org/research/gaag/2010/b-roll.html).  The Association also provides comprehensive health care and support services, advocacy and education.  For more information, go to: http://www.mda.org/.

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