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Al La Spada, MD PhD

Affiliations: 
1993-2009 University of Washington, Seattle, Seattle, WA 
 2009- Pediatrics University of California, San Diego, La Jolla, CA 
Area:
Polyglutamine disease mechanisms
Website:
https://profiles.ucsd.edu/albert.laspada
Google:
"Al La Spada"
Bio:

https://medschool.ucsd.edu/education/neurograd/faculty/Pages/albert-spada.aspx
Albert La Spada graduated Summa Cum Laude from the University of Pennsylvania with a degree in Biology in 1986. As a recipient of a Medical Scientist Training program award, he pursued combined M.D. - Ph.D. training at the University of Pennsylvania School of Medicine. His 'Molecular Biology' doctoral thesis research focused upon a neuromuscular disorder known as X-linked spinal & bulbar muscular atrophy (SBMA) or Kennedy's disease. While a graduate student, La Spada identified the cause of SBMA as an expansion of a trinucleotide repeat in the androgen receptor gene. As the first disorder shown to be caused by an expanded polyglutamine tract, this discovery of a novel type of genetic mutation has led to the emergence of new field of study in neurodegenerative disease. After completing his M.D. - Ph.D. training in 1993, Dr. La Spada became a Laboratory Medicine resident at the University of Washington Medical Center and then a Clinical Genetics fellow in the Division of Medical Genetics. He pursued postdoctoral fellowship training as a Howard Hughes Medical Institute Physician Fellow, continuing to focus upon neurodegenerative disease. He joined the faculty in the Department of Laboratory Medicine at the University of Washington Medical Center in 1998, and was a Professor of Laboratory Medicine, Medicine (Medical Genetics), Pathology, and Neurology (Neurogenetics). From 2004-2009, he was Director of the Center for Neurogenetics and Neurotherapeutics at the University of Washington. In 2009, Dr. La Spada accepted the position of Professor and Division Head of Genetics in the Departments of Pediatrics and Cellular & Molecular Medicine at the University of California, San Diego, and is a founding faculty member of the UCSD Institute for Genomic Medicine.
Dr. La Spada's research laboratory remains focused upon the molecular basis of neurodegenerative disease. Dr. La Spada's laboratory is attempting to understand the molecular events that underlie the processes of neurodegeneration and neuron cell death in spinocerebellar ataxia type 7 (SCA7), and has found a number of connections between pathways involved in transcription and neuron dysfunction. By reproducing molecular pathology in model organisms such as mice, he has also begun to use this mechanistic knowledge to develop therapies to treat this disorder. Dr. La Spada has been the recipient of numerous grants and awards from the National Institutes of Health, Howard Hughes Medical Institute, Muscular Dystrophy Association, Hereditary Disease Foundation, CHDI, Coulter Foundation, and American Federation for Aging Research. Among his funding awards is the prestigious Paul Beeson Physician Faculty Scholar Aging Research Award. In 2006, Dr. La Spada was inducted into the American Society for Clinical Investigation. In 2007, he was bestowed with the Lieberman Award by the Hereditary Disease Foundation for excellence in Huntington’s Disease research. Dr. La Spada sits on a variety of editorial boards and grant review committees
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Mean distance: 16.6 (cluster 11)
 
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Scott A. Wilke research assistant UCSD
Stephan J. Guyenet grad student 2009 University of Washington
Jamie Ann Johansen post-doc 2008-2010 UCSD
Stevan N. Djakovic post-doc 2010-2011 UCSD
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Publications

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Bennett CL, Dastidar S, Arnold FJ, et al. (2023) Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity. Acta Neuropathologica Communications. 11: 164
Gromova A, Cha B, Robinson EM, et al. (2023) X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease. Acta Neuropathologica Communications. 11: 90
Lim WF, Forouhan M, Roberts TC, et al. (2021) Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Science Advances. 7
Zhu Q, Jiang J, Gendron TF, et al. (2020) Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72. Nature Neuroscience
Gray AL, Annan L, Dick JRT, et al. (2020) Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice. Disease Models & Mechanisms
Malik B, Devine H, Patani R, et al. (2019) Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy. Scientific Reports. 9: 3539
Wenzel HJ, Murray KD, Haify SN, et al. (2019) Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology. Acta Neuropathologica Communications. 7: 27
Cortes CJ, La Spada AR. (2018) TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities. Neurobiology of Disease
Bennett CL, Dastidar SG, Ling SC, et al. (2018) Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathologica
Badders NM, Korff A, Miranda HC, et al. (2018) Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy. Nature Medicine
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