Huda Zoghbi

Professor Huda Zoghbi, Baylor College of Medicine, US

Molecular and Neurobiological Studies in Rett syndrome and other MECP2 disorders

16:00 - 17:00, Monday 12th April - The Lundbeck Foundation Plenary Lecture

Biography

Huda Y. Zoghbi, MD, Investigator, Howard Hughes Medical Institute

Ralph D. Feigin Professor, Baylor College of Medicine and Director, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital

Huda Y. Zoghbi is a Professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. She is also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital.

Abstract

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. We 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, we 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.

We 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. We 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.

The Lundbeck Foundation Plenary Lecture

We are delighted to have The Lundbeck Foundation as supporters of the online BNA2021 Festival of Neuroscience.

The Lundbeck Foundation is committed to investing in ground-breaking science and each year award The Brain Prize, a prestigious €1.3 million personal research award, to one or more researchers with an outstanding contribution to neuroscience.

We are very excited for The Lundbeck Foundation Lecture at BNA2021, which will showcase pioneering neuroscience research and stimulate dynamic discussion. This will be a session not to miss!

Find out more about The Lundbeck Foundation here

Additional websites

See Huda Zoghbi's lab website here