A renowned molecular geneticist from Baylor College of Medicine in Houston, Texas, who identified gene mutations that lead to brain disorders will receive the University of Pittsburgh's Dickson Prize in Medicine.
Huda Y. Zoghbi discovered the gene mutation that causes Rett syndrome, a pediatric disorder in which children lose language and motor skills, and the mutation leading to spinocerebellar ataxia type 1 that causes progressive balance and coordination difficulties. Her lab also identified a gene that plays a critical role in formation of a wide range of cell types, including inner ear hair cells and intestinal secretory cells.
"Her work continues to demonstrate the role that basic genetics and molecular neuroscience can play in understanding complex brain disorders," said Arthur S. Levine, dean of the University of Pittsburgh School of Medicine, which presents the annual award that recognizes innovative biomedical research.
She will accept the prize during Science 2013 -- Convergence, the Pitt showcase of scientific research to be held Oct. 2 to 4 at Alumni Hall, Oakland.
"This is a huge, great honor," Dr. Zoghbi said. "Many researchers have the same goal in mind, to make discoveries to help patients."
Research can be inspired by interaction with patients, she said, as happened with her major discoveries. It also can go from bottom up, as her lab is doing with a gene discovered in fruit flies and now being tested in mice that plays a role in neonatal breathing, hearing, balance and intestinal development.
Her work allows earlier diagnosis, interventions and therapies for children with the brain disorders.
"We have stopped putting children through so many tests to determine what's wrong," Dr. Zoghbi said. "Now we can do it with blood tests, leading to clinical benefits. To me, the biggest reward is when we develop therapies to improve outcomes for patients."education - science
David Templeton: firstname.lastname@example.org or 412-263-1578.