Researcher

Huda Zoghbi

Profile

Huda Zoghbi is a Lebanese-American physician-scientist at Baylor College of Medicine and Howard Hughes Medical Institute Investigator who is renowned for her discoveries in the molecular basis of neurological diseases, particularly Rett syndrome and spinocerebellar ataxia (SCA1). Zoghbi identified MECP2 as the gene mutated in Rett syndrome—a devastating autism spectrum disorder affecting primarily girls—and her laboratory has established how MECP2 protein regulates global chromatin structure and gene expression in neurons. This work led to the first proof-of-concept that Rett syndrome may be reversible, as restoring MECP2 function in symptomatic mice rescued their neurological deficits. Multiple gene therapy and MECP2-targeting approaches are now in clinical development, directly inspired by her research. Zoghbi also discovered that polyglutamine expansions in ataxin-1 cause SCA1 and found that reducing ataxin-1 levels rescues neurodegeneration in mice, opening a therapeutic strategy. Her work has extended to studying how protein levels and quality control in neurons relate to neurological disease, informing therapeutic approaches for multiple neurodegenerative conditions. Biotech companies working on gene therapy for CNS diseases frequently cite her foundational research.

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