Dr. Huda Zoghbi is conducting basic science research on MECP2 Duplication Syndrome. This involves studying the pathophysiology of disease in mice engineered to have the syndrome as well as the testing of drug compounds to see if the disease process can be impacted.
Dr. Melissa Ramocki is conducting clinical research on MECP2 Duplication Syndrome. It is important to understand the natural history of the syndrome, as well as the effects of the size and gene content of the duplicated region on clinical phenotypes, in anticipation of clinical trials in the future. She is also interested in understanding why affected children are predisposed to infection so that the infections can be prevented.