Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.
This month, we are featuring Kennedy's disease. Kennedy's disease is an X-linked disorder characterized by muscle weakness and wasting that typically manifests in adulthood. It is caused by a mutation in the AR gene, which is responsible for encoding a protein called an androgen receptor. Studies show that some female carriers may experience muscle weakness and neurodegeneration.
Today, we are joined by Dr. Christopher Grunseich, M.D. Dr. Chris Grunseich is a Staff Clinician in the Neurogenetics Branch, NINDS. He completed his undergraduate studies at Brown University, and went on to receive his M.D. from SUNY Stony Brook School of Medicine in 2006. While at SUNY Stony Brook he completed an HHMI research fellowship year working in the laboratory of Dr. Gail Mandel. He then completed medical internship at St. Vincent’s Hospital, and his residency training in neurology at Georgetown University. He joined Dr. Kenneth Fischbeck’s research group as a neurogenetics fellow, and has been a Staff Clinician since 2016. He is board certified in Neurology. His research focuses on clinical studies of patients with motor neuron disease and using patient-derived cell models to better understand the biology of motor neuron diseases.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
