Gene editing shown to correct rare brain mutations in mice– cosmosmagazine.com

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Excerpt:

Scientists have used a single injection to correct gene mutations caused by an ultra-rare disease, improving symptoms and survival rates in mice.

Published in Cell, the gene editing study targeted the 2 most common mutations that cause alternating hemiplegia in childhood (AHC).

AHC is a rare neurological disorder affecting 1 in a million people. Symptoms, which usually begin before the age of 18 months, include weakness and paralysis in one or both sides of the body, muscle stiffness and, in some cases, seizures.

Current treatments help with symptom management but there is no known cure for AHC.

The researchers consisted of a team from the Rare Disease Translational Centre, the Broad Institute and the not-for-profit, RARE Hope.

Mice models were previously developed by Markus Terrey and Cathleen Lutz, vice president of the Rare Disease Translational Centre.

“Five years ago, people would have thought that going into the brain of a living organism and correcting DNA was science fiction. Today, we know this is doable,” says Terrey, who co-led the study.