Abstract:These coincidences caught Zoghbi’s attention at first, but her desire to help Rett syndrome patients and their families exerted lasting effects on her career. Two years after first encountering patien...These coincidences caught Zoghbi’s attention at first, but her desire to help Rett syndrome patients and their families exerted lasting effects on her career. Two years after first encountering patients with this disorder, Zoghbi sidelined her clinical career and formally trained as a researcher in genetics in the hopes of understanding the causes of diseases like Rett syndrome. Nearly 20 years later, in 2004, she was elected to the National Academy of Sciences for her research on the molecular genetics of neurological disorders, including her 1999 discovery of the gene responsible for Rett syndrome. Zoghbi’s Inaugural Article (2), published in a recent issue of PNAS, continues her explorations of the disease’s mechanisms.Read More