HHMI Investigator Huda Zoghbi is one of seven scientists honored with prestigious awards from Canada's Gairdner Foundation.

The Gairdner Foundation announced today that Howard Hughes Medical Institute (HHMI) investigator Huda Y. Zoghbi of Baylor College of Medicine is a recipient of the prestigious 2017 Canada Gairdner International Award in recognition of her contributions to medical science.

The awards, which are presented annually, recognize scientists responsible for some of the world’s most significant medical discoveries.

Zoghbi, who became an HHMI investigator in 1996, was honored for the discovery of the genetic basis of Rett syndrome and its implications for autism spectrum disorders.

Zoghbi and her collaborators have unraveled the genetic underpinnings of a number of devastating neurological disorders, including Rett syndrome and spinocerebellar ataxia type 1 (SCA1). Their discoveries have provided new ways of thinking about more common neurological disorders, including autism, intellectual disability, and Parkinson’s disease, and could lead to better treatments.

Zoghbi was enrolled in medical school at American University in Beirut when war erupted in Lebanon in 1975. When she went home after her first year, fully intending to return to school in the fall, she learned that her younger brother had been hit by shrapnel. He wasn’t badly injured, but Zoghbi’s parents decided to send her and her brothers to stay with relatives in the United States for the summer. The war escalated and Zoghbi could not return home, so she transferred to Meharry Medical College in Nashville, Tennessee.

As she was nearing the end of her training as a pediatric neurologist, Zoghbi met a young patient who changed her life. The girl had developed normally until she was 18 months old, but by age five she was experiencing seizures and balance problems, was constantly wringing her hands, and could not communicate. Unable to offer the girl’s parents any answers, Zoghbi set out to find some. She studied molecular genetics and dedicated her career to research.

Sixteen years later, Zoghbi’s team at Baylor College of Medicine identified a gene, MECP2, that, when mutated, causes Rett syndrome, the enigmatic disease Zoghbi first encountered in the young patient. She later found that mutations in MECP2 can cause neurological problems beyond those typical of Rett syndrome, and showed that the protein encoded by the gene is critical for mature neurons to function in the brain.

Zoghbi’s lab studies neurodevelopment and neurodegeneration from several different angles. Many neurodegenerative diseases – including Parkinson’s, Alzheimer’s, and Huntington’s – are caused by the buildup of toxic proteins in the brain. Zoghbi’s lab showed that the rare disease spinocerebellar ataxia (SCA1) is caused by the toxic protein ataxin-1. That research has had broad implications for the understanding of this class of diseases as well as for neurobiology. Zoghbi’s research on Rett syndrome and SCA1 garnered a 2017 Breakthrough Prize in Life Sciences.

The Gairdner laureates will travel to Canada in October to receive the awards.  Each year seven Canada Gairdner Awards are presented to honor the world’s most significant biomedical and global health researchers. The Canada Gairdner International Award is given to five individuals for outstanding international biomedical research, while the Canada Gairdner Wightman Award is given to an individual leader in Canadian medicine. The John Dirks Canada Gairdner Global Health Award recognizes a contribution to health in the developing world.

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