Baylor Rett syndrome researcher to receive top honor
By David Templeton –
A noted molecular geneticist at Baylor College of Medicine whose work uncovered the genetic foundation for several neurological disorders has been named this year’s recipient of the University of Pittsburgh’s Dickson Prize in Medicine.
Huda Y. Zoghbi discovered the gene mutation in 1999 that causes Rett syndrome, a pediatric disorder in which children lose language and motor skills after initial normal development.
In 1993, she and her collaborator, Harry Orr of the University of Minnesota, found the mutation that leads to spinocerebellar ataxia type 1, characterized by progressive difficulties with balance and coordination.
Dr. Zoghbi’s lab also identified Math1, a gene that plays a critical role in the formation of a wide range of cell types, including inner ear hair cells and intestinal secretory cells.
“Dr. Zoghbi has made invaluable contributions to our understanding of the genetic roots of the deadly neurodegenerative disorder spinocerebellar ataxia type 1 and of the autism spectrum disorder Rett syndrome,” said Arthur S. Levine, Pitt’s senior vice chancellor for the health sciences and dean of University of Pittsburgh School of Medicine. “Her work continues to demonstrate the role that basic genetics and molecular neuroscience can play in understanding complex brain disorders.”
Dr. Zoghbi will accept the University of Pittsburgh School of Medicine’s most prestigious honor during Science 2013 — Convergence, which is held Oct. 2-4 at Alumni Hall, Oakland.
She is professor in the departments of pediatrics, molecular and human genetics, neurology and neuroscience and the Program in developmental biology at the Baylor College of Medicine, among other academic and medical positions.