Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s, will receive this year’s prestigious Jessie Stevenson Kovalenko Medal for her pioneering advancements in neuroscience research.
The National Academy of Science (NAS) presents this award every two years for outstanding research in the medical sciences. The Kovalenko Fund was gifted by Michael S. Kovalenko in 1949 in memory of his wife, Jessie Stevenson Kovalenko. For the last 63 years, the NAS has chosen distinguished scientists who have made landmark discoveries in medical research to receive this medal.
“Zoghbi unraveled the molecular basis of Spinocerebellar ataxia and Rett syndrome, providing novel insight into the pathogenesis of a broad range of neurologic disorders,” NAS Home Secretary Susan R. Wessler said. “Over the years, she has received numerous awards and prizes that honor her leadership in neuroscience research and exemplary mentorship to young neuroscientists. We couldn’t be more excited about this latest award. Her research initiatives have provided much needed rays of hope for many patients and their families.”
Zoghbi, who is a professor of molecular and human genetics, pediatrics, neurology and neuroscience at Baylor College of Medicine, has made several seminal discoveries in diverse areas of neuroscience. Her work has significantly furthered our understanding of neurodevelopmental and neurodegenerative disorders and revealed novel strategies to reverse these conditions. In addition, her forays in basic developmental neurobiology have led to important insights in a broad range of conditions from hearing loss to colon cancer.
Among her many scientific accomplishments, Zoghbi is widely recognized for her pioneering work on Rett syndrome, a form of autism common among girls. In 1999, she and her colleagues discovered that Rett syndrome is caused by loss-of-function mutations in the X-linked gene MeCP2 (methyl-CpG-binding protein 2) which established it as the first autism spectrum disorder that is largely caused by sporadic gene mutations. She would go on to demonstrate that the brain is exquisitely sensitive to levels of what she terms the “goldilocks” protein, MeCP2, and that doubling MeCP2 levels causes another devastating neurological syndrome among boys.
Recently, her lab showed that using small antisense oligonucleotides to normalize MeCP2 levels in the brain reversed the debilitating symptoms of MeCP2 duplication syndrome in a mouse models of that disease.
Zoghbi will receive the Jessie Stevenson Kovalenko Medal on Sunday, May 1, at the National Academy of Science’s 153rd Annual Meeting.