Research Seminar

MWRI WIP "Understanding the molecular defects of cystic fibrosis: Implications for personalized therapy"

April 22, 2014
12:00 PM
Patrick Thibodeau, PhD
Assistant Professor, Dept of Cell Biology, University of Pittsburgh
Magee-Womens Research Institute, 204 Craft Ave, Conf Center, 1st Floor
Physicians earn 1.0 CMEs
Light lunch provided. Registration is not required.

Cystic fibrosis, a monogenic illness of altered epithelial salt and fluid secretion, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an ATP-binding cassette (ABC-) transporter.  Biochemical, structural, and energetic studies have revealed distinct steps in the biosynthetic pathways that are altered by disease-causing mutations.  Our studies have focussed on understanding the physical basis by which the CFTR protein is altered by mutation and mechanisms by which these defects can be corrected.  Our data indicate that CFTR biosynthesis follows a step-wise pathway that can be modulated at multiple steps to influence the fate of the wild type and mutant proteins.  These data have direct implications for small molecule screening and personalized medicine for CF patients and other diseases involving ABC transporters.