Fixing embryo DNA to cure heart disease

Sat 05 August 2017

A groundbreaking study demonstrating the technique that for the first time corrects faulty DNA linked to fatal heart condition and raises hopes for parents who risk passing on genetic diseases was published in the journal Nature. The study focused on correcting hypertrophic cardiomyopathy (HCM), but scientists believe the same approach could work for other conditions caused by single gene mutations, such as cystic fibrosis and certain kinds of breast cancer. A mutation called MYBPC3 is associated with familial HCM which affects an estimated one in 500 people worldwide. The researchers described the correction of the MYBPC3 gene mutation in human preimplantation embryos using a gene-editing technique called CRISPR–Cas9 during in-vitro fertilization. CRISPR was introduced at the time of sperm injection. The researchers found that about 72% of embryos were properly and safely corrected on the MYBPC3 gene. While none of this controversial research so far has created babies from modified embryos, a move that would be illegal in many countries, this embryo gene correction method can potentially be used to prevent transmission of genetic disease to future generations.

Author: Davorin Sef, Inder Birdi

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