Thursday, August 19, 2010

Dr. La Spada receives three year grant

Yesterday, the MDA announced that they were awarding a three-year grant to Dr. Al R. La Spada in order for him to continue his research on Kennedy's Disease (Spinal Bulbar Muscular Atrophy). The grant is worth $330,000 bringing the MDA's investment in Dr. La Spada's research on Kennedy's Disease to $1.2 million over the last ten years. This is great news for all of us living with Kennedy's Disease.

In the press release, the MDA said, "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."

About a year ago, Dr. La Spada moved from the University of Washington to the University of California in San Diego. His current position is Professor of Pediatrics and Cellular & Molecular Medicine, Chief of Genetics in the Department of Pediatrics. "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."

"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."

Dr. La Spada is a member of the Scientific Review Board of the Kennedy's Disease Association. Other members of the board are Doctors ... Kenneth Fischbeck (National Institute of Health), Diane Merry (Thomas Jefferson University), Andrew Lieberman (University of Michigan) and Paul Taylor (St. Jude Children's Research Hospital).

One of Dr. La Spada's researchers, Parsa Kazemi-Esfarjani, B.Sc., Ph.D., was awarded a Kennedy's Disease Association research grant last November. His research will attempt to determine whether, and to what extent, the mutant androgen receptor (AR) in the muscle contributes to both muscle atrophy and motor neuron degeneration in Kennedy's Disease (KD).  With this knowledge, they hope to develop therapies for KD more effectively and target them to the appropriate tissues.

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