Скачать или смотреть Experience Rochester: Gene Therapy in Neurology

Neurology and neuromuscular medicine are leading the way in the rapidly expanding field of in vivo gene therapy.

In December 2018, University of Rochester Medical Center (URMC) neurologists delivered gene therapy to an infant born with spinal muscular atrophy (SMA), a condition similar to Lou Gehrig’s disease, and a diagnosis that was previously either fatal or meant a lifetime of severe disability.

Since then, the SMA gene therapy program has grown, and children with SMA now live near-normal lives. In 2022, children that came to URMC were among the first to receive an experimental gene therapy for Duchenne muscular dystrophy. These treatments are part of an accelerating trend of research and clinical trials involving gene therapies that marshal the renowned expertise in our Department of Neurology and could transform how we treat many other debilitating neurological disorders.

URMC neurologists Emma Ciafaloni, MD, Bo Hoon Lee ’13M (MD), ’18M (Res), and Samuel J. Mackenzie, MD, PhD discuss how far we’ve come in treating these devastating neurological diseases, and the optimistic future for many similar conditions.