Meet The Lebanese Geneticist Who Discovered Gene Behind Rett Syndrome

AGAPITO SANCHEZ, JR.

Born and raised in Beirut, Dr. Huda Zoghbi – born Huda El-Hibri – holds multiple accolades for her groundbreaking work in the medical field and was most recently nominated for the Medicine Nobel Prize 2020.

The multi-award-winning Lebanese female geneticist is recognized mainly for her discoveries of the cause of Rett syndrome. She is also known for discovering the gene responsible for spinocerebellar ataxia type 1, a rare neurological disease.

Currently, Zoghbi is a professor of molecular and human genetics at the Baylor College of Medicine in Houston, Texas. 

In 1973, she enrolled at AUB where she studied before having to flee the civil war. While longing to return to Lebanon, she followed the advice of her AUB professors and continued her education in the United States. 

In 1982, she began a pediatric neurology fellowship at the Baylor College of Medicine. There, she became curious about Rett syndrome, a rare neurological disorder that affects the development of the brain, mainly in girls.

It can lead to severe impairments, causing the loss of basic motor functions and speech. 

Early on, she was able to diagnose several patients despite the fact that, at the time, there had not been official reports of Rett patients in the U.S. 

In the same week, she saw two patients with Rett syndrome and learned that previous patients who had suffered from it were misdiagnosed.

With growing curiously, she became determined to identify the gene responsible for the disorder. In 1999, her lab was able to identify the exact cause of Rett syndrome in girls, a gene (MECP2) that mutated in the X chromosome. 

In 2020, she was named Citation Laureate by Clarivate Web of Science, a source for trusted insights and analytics that publishes an annual list of potential candidates who are likely to win a Nobel Prize in their fields. 

It was the first time in history that a Middle Eastern woman was nominated as a possible candidate for the Medicine Nobel Prize 2020.

She was selected for her “discoveries on the pathogenesis of neurological disorders including the genetic origins of Rett syndrome.”

Nobel Prize winners were announced this week, but unfortunately, she did not win. There’s always a chance next year!

Neverhteless, you’ll be happy to know that Zoghbi believes her career in science is not just a job, but a journey that brings “unparalleled joy.”