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    What is Rett Syndrome?

    Rett syndrome is a neurological disease that occurs almost exclusively in girls, eventually robbing them of the ability to speak, walk or use their hands, among other devastating effects. It occurs in about 1 in 8,500 girls and is typically diagnosed between the ages of 6 and 18 months. Rett syndrome is caused by mutations in the X-linked gene MECP2, which is a master regulator of gene expression in the brain.

 

Treatment Strategies

 

Developing Therapies to Fix the Faulty MECP2 Gene In Rett Syndrome


Dr. Watts and colleagues are pursuing two kinds of approaches to repair mutations in the MECP2 gene—either in the DNA itself, or in the messenger RNA produced from the MECP2 gene. The DNA-targeted approaches are being explored in collaboration with Drs. Sontheimer, Wolfe and Khvorova. Dr. Watts is also collaborating with Dr. Jacobson on an alternative approach to attempt to “convince” the protein synthesis apparatus of the cell to read through the mutation in MECP2 and produce a correct protein.

 

Rett Syndrome

Rett Syndrome Investigators

Guangping Gao, Ph.D.

Guangping Gao, PhD

Co-Director, Li Weibo Institute for Rare Diseases Research, Director, Horae Gene Therapy Center and Viral Vector Core, Professor of microbiology and physiological systems, Penelope Booth Rockwell Professor in biomedical Research

Gao Lab

Michael Green

Michael Green, MD, PhD

Chair and professor of molecular, cell & cancer biology, Lambi and Sarah Adams Chair of Genetic Research, Co-director of the Li Weibo Rare Diseases Research Institute, Vice Provost for Strategic Research Initiatives

Green Lab

Jonathan Watts, PhD

Associate professor, RNA Therapeutics Institute

Watts Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.

 

Research That Gives Hope

A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

By Michael R. Green, MD, PhD

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Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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Optimizing Genome Editing Technologies for Therapeutic Application

By Scot A. Wolfe, PhD

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The research in my laboratory is focused on improving genome editing technologies so that they can be applied to the development of therapeutics. Inspired by the opportunity to improve the lives of patients with debilitating disorders, my lifelong goal as a scientist is to translate genome editing technologies to the development of therapeutics for a variety of diseases, both common and rare.

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