Susan Slaugenhaupt, Ph.D.

Dr. Slaugenhaupt studies familial dysautonia (FD), a hereditary sensory and autonomic neuropathy caused by a splice mutation in the IKBKAP gene, and recently identified a new class of splicing modulator compounds (SMCs). Her current project will study how SMCs modify mRNA splicing and determine, for the first time, whether modifying splicing of IKBKAP in vivo will improve the disease phenotype in a new FD mouse model.