Zoghbi is the Ralph D. Feigin Professor of Pediatrics, Neurology, Neuroscience, and Molecular and Human Genetics at Baylor College of Medicine, an Investigator with the Howard Hughes Medical Institute, and the founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
Zoghbi’s interests range from neurodevelopment to neurodegeneration. Her discovery (with Harry Orr) that Spinocerebellar Ataxia type 1 is caused by expansion of a polyglutamine tract and her subsequent studies have had profound ramifications since many late-onset neurological disorders involve accumulations of disease-driving proteins. Zoghbi’s work in neurodevelopment led to the discovery of the gene Math1/Atoh1 and showing that it governs the development of several components of the proprioceptive, balance, hearing, vestibular, and breathing pathways. Zoghbi’s group also discovered that mutations in MECP2 cause the postnatal neurological disorder Rett syndrome and revealed that changes in the levels of MeCP2 in either direction underlie various neuropsychiatric features.
She has been elected to the National Academy of Medicine, the National Academy of Sciences, and the American Academy of Arts and Sciences. Among Zoghbi’s recent honors are the Shaw Prize in Life Science and Medicine, the Breakthrough Prize in Life Sciences, and Canada Gairdner International Prize.