A pediatric neurologist whose breakthrough research identified genetic mutations that cause Rett syndrome and many other neurological disorders will receive the 2014 March of Dimes Prize in Developmental Biology.
Huda Y. Zoghbi, M.D., director of the Jan and Dan Duncan Neurological Institute at Texas Children’s Hospital, an investigator with the Howard Hughes Medical Institute, and a professor in the departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine, discovered that mutations of the X-linked gene MECP2 cause Rett syndrome. She also learned that the protein, MeCP2, influences the expression of thousands of other genes, and variations in the protein’s levels can result in a range of disorders, including autism and early-onset schizophrenia.
Rett syndrome is one of the most common causes of intellectual disability in girls. Symptoms typically appear between the ages of 6 and 18 months. Affected children withdraw socially and often cry endlessly. They compulsively wring their hands and lose language skills and motor coordination, as well as the ability to consciously control their movements. Chewing, swallowing, and even breathing can be a problem. Tremors are common and some children have seizures.
“Dr. Zoghbi’s contributions to our understanding of several entirely different neurological disorders, including her finding of the genetic basis of Rett syndrome, have opened new areas of research,” says Joe Leigh Simpson, MD, senior vice president for Research and Global Programs at the March of Dimes. “Her work influences the entire field of autism and other neuropsychiatric disorders.”
Dr. Zoghbi left Lebanon in 1976 during that country’s civil war. She transferred from the American University of Beirut to Meharry Medical College in Tennessee. Dr. Zoghbi trained in pediatrics, neurology, and molecular genetics at Baylor College of Medicine, joined the faculty, and has remained there for more than three decades. She was the first woman from Baylor to be elected into the Institute of Medicine and the National Academy of Sciences. She has earned dozens of honors and awards, most recently the Gruber Prize in Neuroscience and the Pearl Meister Greengard Prize.
Dr. Zoghbi will deliver the 19th annual March of Dimes Lecture titled: “Rett Syndrome and MECP2 Disorders: From the Clinic to Genes and Neurobiology” at the Vancouver Convention Centre during the Pediatric Academy Societies annual meeting. She will receive the March of Dimes Prize in Developmental Biology at a gala black-tie dinner and ceremony at the Fairmont Pacific Rim Hotel, in Vancouver. CBS sportscaster Greg Gumbel, member of the March of Dimes national Honorary Board of Trustees, is expected to host the award ceremony.
Individuals who receive the March of Dimes Prize are leaders in the field of developmental biology. Their pioneering research offers hope for the prevention and treatment of some of the most serious birth defects and other diseases.
The March of Dimes Prize in Developmental Biology has been awarded annually since 1996 to investigators whose research has profoundly advanced the science that underlies the understanding of birth defects. The March of Dimes Foundation created the Prize as a tribute to Dr. Jonas Salk shortly before his death in 1995. Dr. Salk received Foundation support for his work on the safe and effective polio vaccine. The prize is a cash award of $250,000 and a silver medal in the design of the Roosevelt dime, honoring President Franklin D. Roosevelt, March of Dimes founder. In its 19-year history, the prize has been the crowning glory of a distinguished research career or a stepping stone on the path toward future honors for researchers.