Overview
Motor neuron disease (MND) is a degenerative condition of the nervous system that results in progressive paralysis and weakness of the bulbar and limb muscles. There is an unmet need in this disease to develop new therapeutic strategies. A challenge in the field has been the lack of effective biomarkers for tracking the disease and measuring progression. Two progressive forms of neuromuscular disease being studied are amyotrophic lateral sclerosis type 4 (ALS4) and spinal and bulbar muscular atrophy (SBMA). The goal of our research is to develop new approaches for both tracking disease progression and developing treatment. This will be done through natural history studies, examining the effects of patient mutations in disease relevant tissues and cell models, and characterizing the molecular pathways which lead to motor neuron vulnerability. We have an active clinical research program at the NIH Clinical Center and evaluate patients with inherited neuromuscular diseases and focus on developing therapeutics to reduce the burden of neurological disease.