Jeffrey Lorenz Neul, MD, PhD
Photo: Jeffrey Neul



Elected 2013

Both my clinical and lab research interests are focused on the genetics, pathogenesis, and development of treatment options for childhood neurodevelopmental disorders. My focus is primarily on Rett syndrome, a tragic disorder that primarily affects girls and is most often caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2), which encodes the transcriptional regulator MeCP2. The disease is characterized by the loss of spoken words and volitional hand use, a period of social withdrawal, repetitive hand movements, and difficulty walking.

In my lab, we utilize animal models of this disease to understand the cellular basis of the pathogenesis of the disease. Specifically, we have used genetic methods to either remove or restore MeCP2 function in specific cell populations in the brain to determine the role MeCP2 function in those cells plays on the development of particular phenotypes. Much of the work has focused on understanding which cells and neural circuits are critical in the genesis of the marked autonomic abnormalities present in affected individuals and animal models. In addition to understanding the neurobiology of this disease, we use animal and cellular models to test various treatment options in the lab, with the goal of translating this knowledge into clinical trials.

My clinical practice is focused on the care, the characterization, and the development of treatment for people with Rett syndrome. For many years, I have been involved in a large natural history project focused on Rett syndrome and now am initiating clinical trials in Rett syndrome using a novel pharmaceutical agent.