Huda Zoghbi Receives 2011 Gruber Neuroscience Prize

The Peter and Patricia Gruber Foundation has announced the recipient of the 2011 Gruber Neuroscience Prize, which honors scientists for major discoveries that have advanced the understanding of the nervous system.

Huda Y. Zoghbi, a professor of pediatrics, molecular and human genetics, neurology, and neuroscience at Baylor College of Medicine in Houston, will receive the $500,000 prize for her pioneering work in unlocking the genetic and molecular mysteries behind a number of devastating neurological disorders, including Rett syndrome, spinocerebellar ataxia type 1, and brain tumors called medulloblastomas.

Zoghbi began her career as a clinical pediatric neurologist, and much of her research has evolved from her early experiences with patients with rare neurological disorders. Her first major research breakthrough occurred in 1993 when she co-discovered, with longtime collaborator Harry Orr, a mutation in the gene ATXN1 that is responsible for spinocerebellar ataxia type 1, a deadly neurodegenerative disorder characterized by a progressive loss of movement. That mutant gene, as Zoghbi and collaborators also discovered, produces a sticky protein called ataxin-1, which accumulates in brain cells and causes neuronal dysfunction through abnormal protein interactions. Scientists have subsequently found that something similar occurs in other brain disorders, such as Huntington's, Alzheimer's, and Parkinson's diseases.

In 1999, Zoghbi's lab identified the mutation in the gene MECP2 that causes Rett syndrome, an autism spectrum disorder that leads seemingly healthy female toddlers to avoid eye contact, cease talking, engage in obsessive behaviors (such as constant hand-wringing), and develop other devastating symptoms. Before Zoghbi tracked down MECP2, scientists were not sure the brain disorder was genetic. Further research by Zoghbi has uncovered a host of other information about MECP2 mutations, including the finding that doubling the levels of MECP2 can cause a host of neuropsychiatric features.

"What stands out about Dr. Zoghbi's discoveries is that the original inspiration for her science was her clinical observations — and her determination to 'go to the bench' to solve the mystery of the disorder," said Carol Barnes, chair of the selection advisory board to the Neuroscience Prize. "Her work has revealed probable underlying mechanisms of a number of postnatal neurologic disorders, for which the path to clinical treatment can now be realistically followed. This trajectory to discovery and potential treatment is simply inspirational."