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Albert La Spada, MD, PhD, FACMG - "Dissecting the molecular basis of microsatellite repeat expansion disease: a 25 year neurogenetic odyssey"

(Prof. of Pediatrics, Cellular & Molecular Medicine, and Neurosciences; Division Head of Genetics, Dept. of Pediatrics & Rady Children's Hospital-San Diego; Associate Director, Institute for Genomic Medicine, University of California, San Diego)
When Jun 23, 2016
from 12:00 PM to 01:00 PM
Where Tigem Auditorium "Vesuvius"
Contact Name
Contact Phone 08119230607
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NAME:  Albert La Spada

POSITION TITLE:  Professor & Division Head




(if applicable)


Completion Date





University of Pennsylvania; Philadelphia, PA




University of Pennsylvania; Philadelphia, PA




University of Pennsylvania; Philadelphia, PA



Molecular Biology

University of Washington; Seattle, WA



Clinical Genetics

University of Washington; Seattle, WA



Molecular Neurogenetics

A.        Personal Statement

I am a Physician-Scientist, and maintain a very active research program dedicated to the study of inherited neurological diseases and neurodegenerative disorders. I have been working on inherited neurological diseases for more than 25 years, and I discovered the first CAG repeat expansion mutation in 1991.  I have generated numerous mouse models for these diseases and I have studied transcriptional dysregulation in these disorders, using a variety of genomics and proteomics approaches.  I have also generated cell culture and primary neuron models for various neurodegenerative disorders, and I am adept at developing and characterizing stem cell models of these diseases.  I have experience in applying emerging genetics and genomics techniques to the study of neurobiology and neuropathology, and my research program has a significant translational and therapy development portfolio, based upon mechanistic insights and target pathways identified from our work.  I especially enjoy multi-disciplinary, collaborative research, having published articles with numerous faculty collaborators at a variety of institutions in the USA, Europe, and Asia.  My research accomplishments have been recognized by awards and commendations from the American Federation for Clinical Research, American Society of Human Genetics, National Institutes of Health, Hereditary Disease Foundation, and Harrington Discovery Institute.  I have been selected as a Paul Beeson Physician Faculty Scholar, inducted into the American Society for Clinical Investigation and the Association of American Physicians, and bestowed with a Gund-Harrington Scholar award.  I have served on the medical and scientific advisory boards for five different funding organizations, including the National Ataxia Foundation, the Hereditary Disease Foundation, the American Federation for Aging Research, and Telethon (Italy).  I have also regularly served on NIH study sections and panels over the last ten years.

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