Laura Ranum

Dr. Laura P.W. Ranum, Distinguished Professor of Molecular Genetics and Microbiology, Kitzman Family Professor of Genetics and Director of the Center for NeuroGenetics at the University of Florida. In 2011, her lab discovered that a novel category of proteins are produced from repeat expansion mutations without canonical AUG- or AUG-like initiation codons. These toxic, repeat-associated, non-AUG (RAN) proteins have been found in a growing number of neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and the polyglutamine ataxias. Recently, her team identified polyGlycineArginine (polyGR) containing RAN protein aggregates as a common and unexpected type of pathology found in Alzheimer’s brains. Additionally, her group developed a novel method to clone repeat expansion mutations directly from patient DNA and used this method to identify a novel, intronic, polyGR encoding GGGAGA repeat expansion variant in CASP8 that increases late onset Alzheimer’s risk by 2.2-fold. Mechanistic insights from her work have also identified novel therapeutic strategies to treat RAN protein disorders and have led to a clinical trial for C9orf72 ALS.