Dr. Huda Zoghbi, director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s and Baylor College of Medicine, is being honored by the Gairdner Foundation with the 2017 Canada Gairdner International Award for seminal discoveries and contributions to biomedical science. This award recognizes some of the most significant medical discoveries from around the world.
Zoghbi, who also is professor and Howard Hughes Medical Institute Investigator at Baylor, is one of five individuals given this award. She is being recognized for her work surrounding the discovery of the gene responsible for Rett syndrome.
After years of treating patients, Zoghbi began to focus on finding the genetic causes of the disease, 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.
Zoghbi identified that mutations in MECP2 are the cause of Rett syndrome, revealing the importance of MeCP2 for the function of various neuronal subtypes. Her work showed just how sensitive the brain is to the levels of MeCP2 and that doubling MeCP2 levels causes progressive neurological deficits. This disorder is now recognized as MECP2 Duplication Syndrome in humans.
Her recent work showed the symptoms of adult mice modeling the duplication disorder can be reversed using antisense oligonucleotides that normalize MeCP2 levels.
The 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 also 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.
Her discovery opened up a new area of research on the role of epigenetics in neuropsychiatric phenotypes. Her use of an antisense oligonucleotide to lower MECP2 levels provides a potential therapeutic strategy for the MECP2 duplication syndrome and inspires similar studies for other duplication disorders.
Zoghbi will be presented her award at a gala in Toronto on Thursday, October 26. Each award carries an honorarium of $100,000 to support continued research.