Dr Huda Zoghbi is a Lebanese-born American professor of genetics at Baylor College of Medicine and Texas Children’s Hospital in Houston. Among other things, she identified the gene that causes Rett syndrome.
Huda Zoghbi was born and grew up in Beirut, Lebanon. She enrolled in medical school in 1975. However, when civil war erupted that same year, she and her family moved to Texas where her sister lived. The plan was to move back to Lebanon, but the war escalated and, instead, she enrolled at Meharry Medical College in Nashville where she completed her medical studies. She actually wanted to become a cardiologist. However, after an internship at Texas Children’s Hospital she became fascinated by the brain and began to specialise in this field.
In 1983, Huda read a scientific article about Rett syndrome. This was to become a milestone in her career. Shortly afterwards, she met two developmentally disabled patients at Texas Children’s Hospital and Blue Bird Circle Clinic, and they reminded Huda of the article. Within the space of two weeks, she had officially diagnosed her first Rett patients. She then decided to go through some of the hospital’s journals and found a further five children who were suffering from Rett syndrome but had been misdiagnosed.
Her work with the sick children inspired her not merely to make the lives of these patients and their parents more bearable but to identify the underlying cause of the disorder. However, as a clinician, she did not have any real research experience. She therefore spent the following years enhancing her genetic research skills and studying other, more common neurological disorders.
Over the years, Professor Zoghbi’s research team gathered a large group of Rett patients, including three families. In 1999, a DNA study led to the discovery that Rett syndrome is caused by a mutation in the MECP2 gene; a gene which Sir Adrian Bird identified in 1992 and which is now being seen in other autism spectrum disorders.