New Therapeutic Hope for Rett Syndrome

Researchers find potential treatment by increasing levels of mutant MeCP2 protein

Published on Mar. 5, 2026

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A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital reports in Science Translational Medicine a potential new approach to treat Rett syndrome, a rare genetic neurodevelopmental condition that causes severe impairments in motor skills, speech and communication. The researchers found that increasing the levels of a mutant MeCP2 protein that retains some function can improve symptoms in mouse models of Rett syndrome, providing proof of concept that this strategy could provide therapeutic benefit for patients.

Why it matters

Rett syndrome is a debilitating condition that primarily affects girls, with about 1 in 10,000 live births. The disorder is caused by loss-of-function mutations in the MECP2 gene, which is key for normal brain function. Previous research has shown that the disorder is reversible, so finding a way to increase levels of functional MeCP2 protein could lead to new treatments.

The details

The researchers found that the brain normally produces two slightly different versions of the MeCP2 protein, known as E1 and E2. Only mutations that disrupt the E1 version cause Rett syndrome, while the E2 version is not associated with the condition. By genetically deleting the ingredient that makes the E2 version, the researchers were able to increase production of the E1 version by 50-60% in normal mice. They then applied the same approach to cells derived from Rett syndrome patients, finding that deleting the E2 ingredient enhanced MeCP2 production and helped recover normal cell structure, electrical activity, and gene regulation.

  • The researchers published their findings in the journal Science Translational Medicine on March 5, 2026.

The players

Huda Zoghbi

Distinguished Service Professor at Baylor College of Medicine, director of the Duncan Neurological Research Institute at Texas Children's Hospital, and a Howard Hughes Medical Institute investigator.

Harini Tirumala

Graduate student of molecular and human genetics in the Zoghbi lab and first author of the study.

Baylor College of Medicine

The university where the research team is based.

Duncan Neurological Research Institute (Duncan NRI)

The research institute at Texas Children's Hospital where the study was conducted.

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What they’re saying

“Rett syndrome is a rare genetic neurodevelopmental condition that causes a regression in development, typically after 6 to 18 months of normal growth, leading to severe impairments in motor skills, speech and communication.”

— Huda Zoghbi, Distinguished Service Professor at Baylor, director of the Duncan NRI, and Howard Hughes Medical Institute investigator (Mirage News)

“This is important because about 65% of patients with Rett syndrome have partially functional MeCP2 that either has decreased DNA binding or is less abundant than normal.”

— Harini Tirumala, Graduate student (Mirage News)

“Our work lays the foundation and provides preclinical evidence for a therapeutic approach for Rett syndrome that increases MeCP2 and confers functional improvement.”

— Huda Zoghbi (Mirage News)

What’s next

The researchers plan to continue testing their approach in additional preclinical studies to further evaluate its therapeutic potential for Rett syndrome.

The takeaway

This study provides promising new evidence that targeting the production of the MeCP2-E2 protein variant could lead to a new treatment strategy for Rett syndrome, a devastating genetic disorder that primarily affects young girls. If successful in further testing, this approach could offer hope to patients and families affected by this debilitating condition.