MONTREAL, Oct. 18, 2023 -- Huda Zoghbi, MD, professor of molecular and human genetics, Baylor College of Medicine, has made a groundbreaking discovery in the field of neurology. Her research shows that mutations in the MECP2 gene are responsible for causing Rett syndrome, a childhood disorder that primarily affects females and is diagnosed in around 1 in 10,000 girls born each year.
Rett syndrome is a delayed-onset childhood disorder 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.
Dr. Zoghbi's groundbreaking research not only enhances our understanding of Rett syndrome but also reveals its connection to a spectrum of neuropsychiatric phenotypes, from autism to bipolar disorders.
Using genetically-engineered mice, Dr. Zoghbi and her team 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. Dr. Zoghbi found that normalizing MeCP2 levels in a mouse model can reverse disease-like features of the human MECP2 duplication syndrome, a disorder that is usually found in boys and results from excess MeCP2 protein.
Her research also pinpointed the specific neurons and circuit abnormalities that mediate the various symptoms of Rett syndrome. Using either deep brain stimulation or intense presymptomatic training of a Rett syndrome mouse model, her team showed that many symptoms can be normalized.
"The fact that either deep brain stimulation or intense presymptomatic training can normalize circuit function and behavior is quite exciting as it tells us that such interventions have the potential to help patients," said Dr. Zoghbi. This knowledge will create the foundation for researchers to explore deep brain stimulation as an option to treat several Rett syndrome phenotypes, offering potential relief for affected individuals.
Moreover, this breakthrough research has far-reaching implications, not only for Rett syndrome but for a broader spectrum of neuropsychiatric disorders. It provides renewed hope for individuals and families affected by these conditions and highlights the promise of further advancements in the field of neurology.
Visit wcn-neurology.com to learn more about Dr. Zoghbi and all the featured research at this year's WCN.
About the World Congress of Neurology
The World Federation of Neurology's World Congress of Neurology brings together leading neuroscientists and public health experts to turn research into action and emphasize the importance of brain health across the globe. The 26th biennial conference was held in Montreal from October 15 to 19, 2023, and was co-hosted by the Canadian Neurological Society (CNS).
About the World Federation of Neurology
With support from its 123 national Member Societies, the World Federation of Neurology fosters quality neurology and brain health worldwide by promoting neurological education and training, emphasizing under-resourced areas of the world. As a non-state actor in official relations, WFN supports the World Health Organization (WHO) efforts to give everyone an equal chance to live a healthy life. With Member Societies around the globe, WFN unites the world's neurologists to ensure quality neurology and advocate for people to have better brain health. Learn more about the World Federation of Neurology at wfneurology.org.
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