NIH’s Bonnemann to Deliver Astute Clinician Lecture
Dr. Carsten Bonnemann, senior investigator with NIH’s National Institute of Neurological Disorders and Stroke (NINDS), will deliver the 2025 Astute Clinician Lecture in Lipsett Amphitheater on Wednesday, Dec. 17 at 2 p.m., ET. His lecture is titled, “Clinical Encounters in Neurogenetics: Taking Cues from Single Patients to Discover Genes, Mechanisms and Therapeutic Approaches.”
Bonnemann’s lecture will describe three personal journeys of discovery that led him and his team from encountering a single enigmatic patient to uncovering new genes, mechanisms and treatment approaches, while also providing fundamental insights into human neurobiology. The journey will follow the peripheral nervous system from the motor neuron, via the muscle, to the sensory system.
The first case will describe the discovery of a new gene for childhood-onset ALS (amyotrophic lateral sclerosis) in a young woman with unexplained motor deterioration that led his team to recognize dysregulation of sphingolipid metabolism as a new mechanism for ALS. This led to a new precision therapy to address it. He will also discuss a patient with a severe form of congenital muscular dystrophy that now emerges as one of the most common single causes for this disease. In a third patient, his team encountered complete absence of proprioception (the sense of body position in space) leading to new insights and the development of a sensory prosthesis.
To watch Bonnemann’s lecture online, visit: https://videocast.nih.gov/watch=57136.