Through her pioneering research, neuroscientist Huda Y. Zoghbi, MD, has unlocked the genetic and molecular mysteries of a number of devastating neurological disorders. Her first major discovery was the identification of the mutation in the gene ATXN1 that is responsible for spinocerebellar ataxia type 1, a neurodegenerative disorder characterized by a progressively worsening of problems with movement. A few years later, in 1999, Zoghbi’s lab identified the mutation in the gene MECP2 that causes Rett syndrome, an autism spectrum disorder. Before that discovery, it was not even clear that this brain disorder was genetic. Another major finding from Zoghbi’s lab has been the identification of Math1, a kind of “master gene” that is critical to the formation of hair cells in the inner ear and of specialized neurons in the cerebellum involved in balance and proprioception (the unconscious sense of one’s position in space). Math1 is also a factor in the development of a common brain tumor called medulloblastoma, which affects children and young adults.
