Huda Zoghbi’s first semester of medical school at the American University in Beirut was shattered by civil war, attending class in “safe” rooms, with double-thick walls. Perseverance would become instrumental to the achievements of this internationally renowned child neurologist and molecular geneticist — notably, the discovery of the gene responsible for Rett syndrome.
With an escalating war in Lebanon, Dr. Zoghbi completed her medical studies in the States, earning an MD from Meharry Medical College in Nashville, Tennessee, in 1979. She joined the pediatric residency program at the Baylor College of Medicine and, during a rotation in neurology, became “fascinated by the brain.”
Intending to become a pediatric clinician, an encounter with a 5-year-old girl at Texas Children’s Hospital and an article on Rett syndrome in the Annals of Neurology redirected Dr. Zoghbi’s professional path. She learned that girls almost exclusively are afflicted by this rare neurodevelopmental disorder. They typically develop normally for six to eighteen months and then begin to lose the ability to speak, walk, and use their hands; many display repetitive hand-wringing; their head growth slows and they begin to exhibit autistic-like behavior. That information enabled Dr. Zoghbi to diagnose Rett syndrome in her patient. One week after that, she recognized the syndrome again, in an 11-year-old girl. A search of medical records at the hospital turned up five more patients.
In 1988, she set up her own laboratory at Baylor College of Medicine. Sixteen years after first learning of the disease, in 1999 she and her collaborators identified mutations in the MECP2 gene as the cause of Rett syndrome.Dr. Zoghbi says her ultimate professional goal is “to actually make a patient better” through treatments resulting from her discoveries in research.
Awards and Accomplishments
- Kilby Award for Extraordinary Contributions to Society through Science,Technology, Innovation, Invention, and Education (1995)
- E. Mead Johnson Award for Pediatric Research (1996)
- Sidney Carter Award (1998)
- Member, Institute of Medicine (2000)
- Member, National Academy of Sciences (2004)
- Trustee, American University of Beirut