15 June 2011 It was announced today that Huda Y. Zoghbi will receive the 2011 Gruber Prize in Neuroscience. In addition to a gold medal the award includes $500,000. Her work on MECP2 related disorders including Rett syndrome and MECP2 duplication syndrome figured prominently in this recognition. Congratualtions Dr. Zoghbi.
According to the Gruber Foundation media release:
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 long-time collaborator Dr. 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. The search is now on for drugs that might slow or stop that process.
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 that this 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.