The Inherited Neuromuscular Diseases Unit is part of the Neurogenetics Branch of NINDS. We are a translational science lab working on developing treatments for patients with inherited forms of neuromuscular disease. We study clinical and molecular techniques that can be used to measure disease progression and guide the development of new treatments. The lab uses patient-derived models to characterize molecular pathways leading to degeneration, and is working on designing and testing precision therapeutic approaches focused on the underlying disease mechanism.
PRINCIPAL INVESTIGATOR
Christopher Grunseich, M.D.
Dr. Grunseich is a physician-scientist specializing in inherited neuromuscular diseases at the NIH Campus in Bethesda, MD. His lab focuses on studying markers of muscle and motor neuron pathology that can be used for detecting disease progression and evaluating efficacy in clinical studies. Dr. Christopher Grunseich completed his undergraduate studies at Brown University and went on to receive his M.D. from SUNY Stony Brook School of Medicine in 2006. Dr. Grunseich completed neurology residency at Georgetown University and a neurogenetics fellowship at NINDS. He became a Lasker clinical research scholar in 2024 and is currently a Tenure Track Investigator at NINDS. Dr. Grunseich oversees an active clinical research program at the NIH Clinical Center.
A main focus of the lab is understanding the disease mechanisms of two progressive forms of motor neuron disease: spinal and bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis type 4 (ALS4). The lab seeks to understand how molecular dysfunction in these two diseases results in degeneration and develop new approaches to treatment. Establishing disease specific measures of toxicity in the muscle or spinal cord would allow for improved understanding of the disease mechanism and better approaches to evaluate therapeutic engagement at the target tissue.