AUB trustee and alumna Dr. Huda Zoghbi received the Canada Gairdner International Award for the discovery of the genetic basis of Rett syndrome and its implications for autism spectrum disorders. Dr. Zoghbi is one of five recipients of the prestigious international award this year, recognized for their breakthrough contributions to biomedical research.
The award gala took place on October 26 at the Royal Ontario Museum in Toronto, Canada, as more than 500 people gathered to celebrate science and extraordinary achievements in biomedicine, and to congratulate the laureates. The 2017 award laureates were announced on March 28 in front of a packed audience at the Toronto Reference Library.
Dr. Zoghbi spent 16 years researching the genetic causes of Rett disease—a crippling, neurodegenerative, delayed-onset autism spectrum disorder—which strikes after a year of normal development and presents with developmental regression, social withdrawal, loss of hand use and compulsive wringing of the hands, seizures, and a variety of neurobehavioral symptoms. She identified a gene, MECP2, that when mutated causes Rett syndrome. This discovery of the Rett syndrome gene provided a straightforward diagnostic genetic test, allowing early and accurate diagnosis of the syndrome. It also revealed that mutations in MECP2 can cause a host of other neuropsychiatric features ranging from autism to juvenile onset schizophrenia. Further, it provided evidence that an autism spectrum disorder or an intellectual disability disorder can be genetic even if it is not inherited.
Zoghbi and her collaborators have unraveled the genetic underpinnings of a number of devastating neurological disorders, including Rett syndrome and spinocerebellar ataxia type 1 (SCA1). Their discoveries have provided new ways of thinking about more common neurological disorders, including autism, intellectual disability, and Parkinson’s disease, and could lead to better treatments.
Established in 1957, the Gairdner Foundation recognizes international excellence in fundamental research that impacts human health. It recognizes scientists who have made some of the world’s most significant medical discoveries. Seven awards are given annually: five Canada Gairdner International Awards for outstanding biomedical research with original contributions to an increased understanding of human biology and disease; one John Dirks Canada Gairdner Global Health Award to recognize a scientist who has had or will potentially have a significant impact on health outcomes in the developing world; and one Canada Gairdner Wightman Award is awarded annually to a Canadian who has demonstrated outstanding leadership in medicine and medical science.
Dr. Zoghbi is a graduate of AUB and Meharry Medical College. She is the Ralph D. Feigin Professor of Pediatrics, Molecular and Human Genetics, Neurology, and Neuroscience at Baylor College of Medicine; a Howard Hughes Medical Institute Investigator; and the founding director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
More recently, Dr. Zoghbi was one of ten people who received an honorary doctoral degree from Harvard University this past May for her work as a neurogeneticist. Her long list of honors include this year’s Breakthrough Prize, the Shaw Prize, the first Nemmers Prize for Medicine, and the Jessie Stevenson Kovalenko Medal, awarded every three years by the US National Academy of Sciences.