Dysautonomia
Foundation Research --
Current Projects
Susan A. Slaugenhaupt and Robin Reed
Investigation of the mRNA splicing defect that causes FD
The aim of this project is to determine how the major FD mutation causes a splicing defect by using an in vitro splicing assay. We will create ‘minigenes’ by piecing together IKBKAP fragments around the mutation and examine how efficiently they splice in this system. We will purify the protein complex that is responsible for splicing, the ‘spliceosome’, from both the normal and FD reactions and determine how they differ. Ultimately, we will see if we can correct the splicing defect using factors known to influence splicing in cells. Positive reagents will then be tested both in patient cells and in the FD mouse model.
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.
Robin
Reed, Ph. D.
Professor of Cell Biology, Harvard Medical School
Robin Reed became a Professor of Cell Biology in 1999. She was first appointed an Assistant Professor of Cellular and Molecular Physiology at Harvard Medical School in 1989. Dr. Reed received her undergraduate training from Hiram College and her Ph.D. degree from Yale University. She did her postdoctoral training in the Department of Biochemistry and Molecular Biology at Harvard University.