Dysautonomia
Foundation Research --
Current Projects
James
F. Gusella and Susan A. Slaugenhaupt
Screening for FD Drugs in Patient Cell Cultures
The
aim of this project is to screen existing panels of drugs that are already FDA
approved to see if they can influence splicing of the FD gene, IKBKAP.
The major FD mutation causes aberrant skipping of exon 20 during pre-mRNA
splicing, resulting in the production of both mutant and normal mRNA.
We have shown that the ratio of normal to mutant mRNA varies in different
cell types, with nervous system tissue expressing primarily mutant IKBKAP.
Our goal is to identify drugs that improve splicing efficiency in patient
cells since these may represent possible therapeutic agents for FD.
These drugs will be tested in the splicing system currently under
development by Drs. Reed and Slaugenhaupt, and ultimately in the FD mouse.
James
F. Gusella, Ph. D.
Bullard Professor of Neurogenetics, Harvard Medical School
Director, Molecular Neurogenetics Unit, Massachusetts General Hospital
James
Gusella was named the Bullard Professor of Neurogenetics in 1993.
Dr. Gusella received his undergraduate training from the University of
Ottawa. He earned his M.Sc., from
the University of Toronto and his Ph.D. from the Massachusetts Institute of
Technology.
Susan A. Slaugenhaupt, Ph. D.
Assistant Professor of Neurology
Harvard Medical School and Massachusetts General Hospital
Susan Slaugenhaupt became an Assistant Professor of Neurology in 2001.
Dr. Slaugenhaupt received her undergraduate training from Eckerd College and earned her M.S. and Ph.D. from the University of Pittsburgh. She did her postdoctoral training in the Molecular Neurogenetics Unit at Massachusetts General Hospital.