Breakthrough in Gene Therapy Reverses Brain Disorder Symptoms in Mice

Scientists at the Allen Institute have achieved a significant milestone by developing a novel gene therapy that successfully reversed symptoms associated with SYNGAP1-related disorders (SRD) in mice. These disorders are linked to severe neurological conditions such as intellectual disability, epilepsy, motor difficulties, and behavioral issues, often caused by having only one functional copy of the SYNGAP1 gene. In humans, SRDs can lead to profound impairments affecting daily life.

The innovative approach involved using an adeno-associated virus (AAV) as a delivery vehicle to introduce a healthy copy of the SYNGAP1 gene directly into brain cells. Typically, the gene is too large to fit into delivery systems like AAV, but researchers engineered a larger version that was successfully packaged and administered. This groundbreaking method allowed targeted therapy to address the root genetic cause of the disorder.

Published recently in the journal "Molecular Therapy," the study reports that the gene therapy restored normal brain activity, significantly reducing epileptic seizures, hyperactive behaviors, and risk-taking tendencies characteristic of SRD. It also improved brain wave patterns linked to cognitive functions such as learning, memory, and attention. Notably, the therapy was effective when administered during the juvenile stage of mice, which corresponds to early childhood in humans, indicating potential benefits for early treatment after diagnosis.

This research offers hope for future human trials and underscores the potential of gene therapy to transform the treatment landscape for SRDs. Currently, management options are limited and only alleviate symptoms without addressing the genetic root. This therapy aims to provide a targeted, disease-modifying solution that could improve quality of life for affected individuals.

While further testing is necessary, these findings mark a crucial step toward developing effective treatments for severe neurological disorders linked to gene mutations, promising a future where genetic correction could alleviate debilitating symptoms in children and adults alike.

Source: https://medicalxpress.com/news/2025-10-scientists-genetic-defect-mice-brain.html