Deconstructing Neurodegenerative Proteinopathies: From Pathology of Neuron Demise to Therapeutic Interventon

Join the Department of Neurobiology and Behavior in a hybrid seminar featuring Dr. Albert La Spada.

Abstract:Both rare inherited neurodegenerative disorders and common sporadic neurodegenerative diseases are caused by misfolded proteins that accumulate in neurons and glia of affected patients.  The CAG – polyglutamine (PolyQ) repeat diseases are one category of inherited neurodegenerative disorders that are caused by the expansion of a CAG triplet repeat, resulting in a protein with an abnormally extended polyglutamine (polyQ) tract.  The repeat expansions in these diseases occur in the coding region, and lead to the production of aggregate-prone proteins.  Of the nine CAG-PolyQ diseases, I have been studying the disease pathogenesis of three such disorders: X-linked spinal & bulbar muscular atrophy (SBMA/Kennedy’s disease), Huntington’s disease, and spinocerebellar ataxia type 7.  To determine the cellular and molecular basis of these diseases, I have relied upon mouse models and human stem cell models, and through these efforts, I have uncovered a central role for transcription dysregulation, altered proteostasis, and bioenergetic abnormalities in the pathogenesis of these disorders.  Unbiased transcriptome analysis and directed studies of cell-type contribution have yielded crucial insights into the nature of these diseases, and have revealed targets and pathways likely amenable to therapeutic manipulation.

Hybrid Event

The seminar will be live-streamed via zoom and in person.
Please RSVP to let us know how you will attend and receive zoom link.

In-Person Meeting: Interdisciplinary Science and Engineering Building (ISEB) auditorium