Molecular and Neurobiological Studies in Rett Syndrome and MECP2 Disorders

Event Details

Type

Friday Lecture Series

Speaker(s)

Huda Y. Zoghbi, M.D., distinguished service professor, departments of pediatrics, molecular and human genetics, neurology and neuroscience, Baylor College of Medicine; director, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital; investigator, Howard Hughes Medical Institute

Speaker bio(s)

Rett syndrome is a delayed-onset childhood disorder, typically found in girls, that causes a broad range of severe neurological disabilities, including loss of the ability to speak and socialize, and the development of tremors, ataxia, seizures, autonomic dysfunction, and stereotypic hand-wringing movements. The Zoghbi Lab discovered that mutations in the gene MECP2 cause Rett syndrome, and before long it became clear that mutations in MECP2 can also cause other neuropsychiatric phenotypes ranging from autism to bipolar disorders. Using genetically-engineered mice, they learned that the brain is acutely sensitive to MeCP2 levels; both decreases and increases in the amount of MeCP2 protein can lead to neurological problems that are also observed in humans. The Zoghbi Lab learned that normalizing MeCP2 levels can reverse disease-like features in a mouse model of the human MECP2 duplication syndrome, a disorder that is usually found in boys and results from excess MeCP2. They have recently discovered that the plasticity of the brain in Rett syndrome mice is far better in the pre-symptomatic phase highlighting the importance of early diagnosis and interventions.

Born and raised in Lebanon, Huda Zoghbi received her undergraduate degree in biology from the American University of Beirut and began medical school there in 1975. The civil war erupted the next semester, and at the beginning of the second year she scrambled to transfer to a medical school in the United States. Meharry Medical College in Nashville, Tennessee welcomed her, even though the fall semester had already begun—one of many strokes of good fortune for which she is grateful. 

After graduation, Dr. Zoghbi joined the pediatrics residency program at Baylor College of Medicine (BCM), where she discovered a love for neurology. As a neurology resident at Texas Children’s Hospital, she met several children with the deeply puzzling Rett Syndrome, which led her to pursue—despite no lab experience whatsoever—a postdoctoral fellowship with the eminent geneticist Arthur Beaudet. She joined BCM’s faculty as an Assistant Professor in 1988, where she has studied both neurodevelopmental and neurodegenerative conditions.

Since 1996 she has been an Investigator with the Howard Hughes Medical Institute, and she currently holds the Ralph D. Feigin Professorship in Pediatrics, Neurology, Neuroscience, and Molecular and Human Genetics and is the Distinguished Service Professor at BCM. In 2010 Dr. Zoghbi founded the Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital, where she leads over 30 Principal Investigators and several hundred trainees and staff in the quest to understand and treat neurological diseases. She has trained more than a hundred graduate students and postdoctoral fellows, a majority of whom are making their own contributions now to biomedical research.

Dr. Zoghbi’s honors include the Pearl Meister Greengard Prize from Rockefeller University; the Vanderbilt Prize in Biomedical Science; the Breakthrough Prize in Life Sciences; the Canada Gairdner International Prize; the Lundbeck Foundation Brain Prize; and the Kavli Prize in Neuroscience.

FLS lectures will take place in Caspary Auditorium and virtually via Zoom. We recommend virtual participants log out of VPN prior to logging in to Zoom. Please do not share the link or post on social media. This talk will be recorded for the RU community. 

Open to

Tri-Institutional