Dr. Huda Zoghbi's Quest for Answers

The Baylor College of Medicine physician who discovered the cause of Rett syndrome did not set out to be a researcher.

"I grew up in Beirut and wanted to major in English literature," says Dr. Huda Y. Zoghbi. "My parents thought it would be better to prepare for a more reliable career, so I joined medical school and planned to be a pediatrician treating children in Lebanon."

The civil war in Lebanon during the mid-70s broke out after Dr. Zoghbi had entered medical school at the American University of Beirut. During the war, the only safe place was a basement with double walls, so university students lived in the same shelter where they were taught. Even though Dr. Zoghbi's family lived only three miles away from campus, she couldn't go home because bombs were falling everywhere.

For safety reasons, Dr. Zoghbi's parents convinced her at the end of her first year of medical school to move to the United States to complete her education. Dr. Zoghbi transferred to Nashville's Meharry Medical College, from which she received an M.D. in 1979. She then moved to Houston for a pediatric residency at Baylor College of Medicine, where she was inspired to pursue an additional residency in child neurology. Seeing children with incurable, inherited neurologic diseases piqued her interest in research and led her to take on a postdoctoral fellowship in molecular genetics.

Dr. Zoghbi joined the Baylor faculty in 1988 and is now a professor of pediatrics, neurology, molecular and human genetics, and neuroscience. She is also a pediatrician at Texas Children's Hospital and Ben Taub General Hospital. She was selected to be a Howard Hughes Medical Institute Investigator in 1996.

Dr. Zoghbi's interest in Rett syndrome began 16 years ago when she encountered her first patient with the disorder. "I was fascinated by the fact that this girl has normal early development, then started losing her speech and other motor skills, and then stopped degenerating," says Dr. Zoghbi. "This was a unique neurological disease, and I wanted to know what caused it."

The MeCP2 gene that causes Rett syndrome is just one of many genetic discoveries that Dr. Zoghbi has made. Earlier this year she identified Math1, a gene that governs the development of inner-ear hair cells essential for hearing. She is also a co-discoverer of the gene that causes spinocerebellar ataxia type 1, an inherited, late-onset neurodegenerative disease.

Among the honors Dr. Zoghbi has received are the Sidney Carter Award from the American Academy of Neurology, the Javits Award from the National Institutes of Health, and the E. Mead Johnson Award for Pediatric Research - the nation's most distinguished pediatric research award.

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©2006 Texas Medical Center

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