NEW YORK, June 15, 2011 /PRNewswire/ -- Huda Y. Zoghbi, MD, will receive the 2011 Neuroscience Prize of The Peter and Patricia Gruber Foundation for her pioneering work in unlocking genetic and molecular mysteries behind a number of devastating neurological disorders, including Rett syndrome, spinocerebellar ataxia type 1, and brain tumors called medulloblastomas. Her contributions have also greatly advanced our scientific understanding of autism, Parkinson's disease, and Alzheimer's disease.
Zoghbi, 56, is a professor of pediatrics, molecular and human genetics, neurology, and neuroscience at Baylor College of Medicine in Houston, Texas. She is also director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and a Howard Hughes Medical Institute investigator. Her work has inspired many researchers in the broad field of neurological disorders, and serves as an exemplar of how complex brain disorders can be better understood through basic genetics and molecular neuroscience.
She will receive the award November 13 in Washington D.C. at the Annual Meeting of the Society for Neuroscience and will deliver a lecture titled "Rett syndrome: Linking Epigenetics and Neuronal Plasticity."
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 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. Scientists have subsequently related the discovery to other brain disorders, such as Huntington's, Alzheimer's, and Parkinson's diseases.
Professor Zoghbi is perhaps best known for her lab's 1999 identification of a 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. Until then, scientists were not sure this disorder was genetic. Further research by Zoghbi has uncovered much more about MECP2 mutations, including the finding that doubling levels of MECP2 can cause a host of neuropsychiatric features. These discoveries opened exciting new approaches to the study of autism and other psychiatric disorders.
Zoghbi's lab also identified Math1, a gene central to the formation of hair cells in the inner ear, which may lead to more effective treatments for certain types of deafness – especially age-related deafness and vestibular problems. Zoghbi and her team have also discovered that continuous activation of Math1 can cause granule cells in mice hindbrains to grow nonstop, which may be relevant to treating a common childhood brain tumor called medulloblastoma, and open up a new pathway for therapy in cancer.
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|SOURCE The Peter and Patricia Gruber Foundation|
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