Breakthrough achieved in correcting disease-causing mutations

State-of-the-art gene editing tools have been used to correct a disease-causing mutation in early-stage human embryos for the first time ever.

A team led by the Salk Institute have used the CRISPR-Cas9 system to address a dominant mutation in the MYBPC3 gene that is known to be responsible for hypertrophic cardiomyopathy – the most common cause of sudden death in otherwise healthy young athletes.

Tests not only showed that a high percentage of embryonic cells were successfully repaired, but also that the gene correction did not induce any detectable off-target mutations and genome instability, which are seen as major concerns for gene editing.

Although these are preliminary results, with more research needed to ensure no unintended effects occur, it nevertheless indicates that gene editing could feasibly be used to eliminate inherited conditions by ensuring defects are not passed on to future generations.

Juan Carlos Izpisua Belmonte, a professor at Salk's gene expression laboratory, said: "Thanks to advances in stem cell technologies and gene editing, we are finally starting to address disease-causing mutations that impact potentially millions of people."

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