Zoghbi’s lab at the Baylor College of Medicine identified a gene mutation that causes Rett syndrome, a severe genetic disorder that mostly affects girls. After a short period of apparently normal development, the disorder causes them to lose language and motor skills, typically by 18 months of age. The discovery paved the way for a genetic test to diagnose the disorder. The same gene mutation can also cause autism, juvenile-onset schizophrenia and other neuropsychiatric disorders.
Zoghbi also discovered the molecular mechanism of spinocerebellar ataxia 1, a neurodegenerative disorder in which people’s balance and coordination progressively worsens. Zoghbi and collaborator Harry Orr identified the gene mutation responsible for the disorder.
These and other discoveries by Zoghbi have opened up new areas of inquiry with the potential to advance diagnoses and treatments for Alzheimer’s disease, Parkinson’s disease and other neurological diseases.
“Dr. Zoghbi’s extraordinary work represents a powerful example of the direct impact that biological and biomedical research have on the lives of patients,” said Dr. Kelsey Martin, dean of the Geffen School of Medicine.
Zoghbi is scheduled to deliver the Switzer Prize lecture at UCLA on Feb. 16, 2018. She will receive a $25,000 honorarium and a medallion.
“I’m honored to accept UCLA’s Switzer Prize on behalf of the patients and the families to whom I am committed, and also on behalf of my many research collaborators and trainees,” she said.
Zoghbi is a Howard Hughes Medical Institute investigator, a professor at the Baylor College of Medicine and the founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital in Houston. She has faculty appointments in the departments of pediatrics, molecular and human genetics, neurology and neuroscience.
A native of Beirut, Lebanon, Zoghbi fled the civil war in her home country in the mid-1970s while a medical student at the American University of Beirut. She earned a medical degree at Meharry Medical College in Nashville and went on to become chief resident in pediatrics at Baylor College of Medicine and Texas Children’s.
After years of treating patients, Zoghbi became fascinated with the origins of disease and committed to a three-year fellowship in molecular genetics to acquire research training.
She is a member of the National Academy of Sciences, the National Academy of Medicine and the American Association for the Advancement of Science.
Zoghbi is the recipient of a number of other prestigious awards, including the Breakthrough Prize in Life Sciences, the Shaw Prize in Life Science and Medicine and the Canada Gairdner International Award.