Kristin M. Gehrking

Year Entered: 2003

Degrees Received:
B.S. Biology, University of Texas-Austin

Honors and Awards:
NIH National Research Service Award for Individual Predoctoral MD/PhD Fellows, 2006-2011

Thesis Advisor: Harry Orr, Ph.D., Biochemistry, Molecular Biology and Biophysics Graduate Program

Thesis Research: 

My research focuses on Spinocerebellar ataxia type I (SCA1), a neurodegenerative disorder characterized by gait abnormalities, incoordination, and problems with speech, swallowing, and breathing. These symptoms are due to the degeneration of cerebellar Purkinje cells, inferior olive nuclei, and deep cerebellar nuclei. SCA1 is an autosomal dominant disease caused by a toxic gain-of-function expansion of CAG repeats in the Sca1 gene leading to an abnormally long polyglutamine tract in the ataxin-1 protein. SCA1 is one of nine known polyglutamine diseases, including Huntington's and spinobulbar muscular atrophy.

One hallmark of SCA1 is nuclear inclusions which contain the mutant ataxin-1 protein. One hypothesis suggests that the inclusions do not directly cause disease, but that within the inclusions, mutant ataxin-1 sequesters other cellular proteins important for the regulation of transcription, including RORa. My research aims to characterize the genetic and biochemical interactions between Ataxin-1 and RORa and identify rational therapeutic targets.