Gene Therapy

Bryan J. Traynor , M.D., Ph.D., Chief

The Neuromuscular Diseases Research Section investigates the causes and biology of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Our focus is on turning discoveries into better diagnosis and faster development of treatments. We combine large-scale human genetics with detailed molecular profiling to understand disease processes, improve patient grouping, and create biomarkers and outcome tools for clinical trials.

The Section on Molecular Dysmorphology studies the molecular, biochemical, and cellular processes that underlie genetic disorders resulting from impaired cholesterol homeostasis and lysosomal dysfunction. Inborn errors of cholesterol synthesis, such as Smith-Lemli-Opitz syndrome (SLOS), result in congenital malformation/cognitive impairment disorders. Lysosomal diseases such as Niemann-Pick disease, type C (NPC) and CLN3 disease (Juvenile Batten disease) result in progressive neurodegeneration.