UCSD RESEARCHER AWARDED $330K MDA GRANT
TO DECIPHER CYPHER

TUCSON, Ariz., Aug 18, 2010 — Eleven years ago, Dr. Ju Chen and his research team at the University of California San Diego discovered a gene highly expressed in muscle, which they dubbed Cypher.  In the decade since, Chen’s team has learned that genetic flaws in Cypher can cause several muscle diseases, including myofibrillar myopathy, late-onset distal myopathy and skeletal muscle atrophy, and that the Cypher protein also may play a role in myotonic dystrophy, the most common adult form of muscular dystrophy.

“Since we’ve studied Cypher from the beginning, we’d really like to understand the function of the protein and to know the disease mechanism," Chen said from his California laboratory.  To continue his efforts to unravel the role of this mysterious muscle protein in debilitating diseases, Chen has been awarded a new $330,000 research grant by the Muscular Dystrophy Association.

Chen is one of 38 research leaders who’s been awarded grants from this new round of MDA funding, totaling just over $14 million. Including this $330,000 grant, Chen and his lab have received more than $900,000 in MDA research funding since 2000.

“Understanding abnormalities in Cypher is a vital step in identifying therapeutic targets for several of the rarest and most poorly understood diseases in MDA’s research program,” said Valerie Cwik, M.D., MDA executive vice president for research and medical director.  “Moreover, as Dr. Chen’s group has shown that the Cypher protein is an integral component of all skeletal muscle, the knowledge gained from his investigation could very well extend to many of the other neuromuscular diseases MDA is working so hard to defeat.”

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 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.”

Chen is grateful for the MDA funding he’s received for more than a decade.

“MDA is essential to this research. Without support from MDA, we would not be able to continue the important work that has been more than 10 years in the making.”

Often credited for its leadership in building the field of neuromuscular disease research, MDA also has 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.

In San Diego, individuals affected by any of the more than 40 muscle diseases covered by MDA can receive excellent medical care at the MDA Clinic at 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.