Albert R. La Spada, M.D., Ph.D. Associate Professor of Laboratory Medicine Research Affiliate, Center on Human Development and Disability Associate Director, CHDD Research Development laspada@u.washington.edu 206-598-2138, 206-598-3380 University of Washington, Box 357110 Seattle, WA 98195-7110

Dr. La Spada's research focuses on understanding why trinucleotide repeats expand to cause neurological disease and how these disease mutations lead to the specific demise of nerve cells. Specifically, he is interested in molecular and genetic factors in spinocerebellar ataxia type 7 (SCA7), spinal-bulbar muscular atrophy (SBMA), and Huntington's disease (HD), as well as in Parkinson’s disease, that affect neuron degeneration.

La Spada researches ways to understand how neurons degenerate and why the degeneration is restricted to certain cell types in different diseases. He and his colleagues use molecular genetics and functional genomics and focus their efforts on three polyglutamine repeat diseases: SCA7, SBMA, and HD. Recent emphasis has been placed upon modeling the retinal degeneration in SCA7, understanding its mechanism, and trying to develop therapies to reverse it. For SBMA, La Spada’s group is trying to understand why motor neurons are exquisitely sensitive to glutamine tract expansions in the androgen receptor by developing a variety of in vitro and in vivo models. Hypotheses being investigated are transcription interference and the role of apoptotic activation. An enigmatic phenomenon observed in the trinucleotide repeat diseases is genetic instability. Additional studies are aimed at determining the cis- and trans-acting factors that underlie the repeat instability process.

Al LaSpada's web page

CHDD Outlook article

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