Groundbreaking project corrects faulty DNA linked to fatal heart condition and raises hopes for parents who risk passing on genetic diseases
Scientists have modified human embryos to remove genetic mutations that cause heart failure in otherwise healthy young people in a landmark demonstration of the controversial procedure.
It is the first time that human embryos have had their genomes edited outside China, where researchers have performed a handful of small studies to see whether the approach could prevent inherited diseases from being passed on from one generation to the next.
While none of the research so far has created babies from modified embryos, a move that would be illegal in many countries, the work represents a milestone in scientists efforts to master the technique and brings the prospect of human clinical trials one step closer.
The work focused on an inherited form of heart disease, 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.
This embryo gene correction method, if proven safe, can potentially be used to prevent transmission of genetic disease to future generations, said Paula Amato, a fertility specialist involved in the US-Korean study at Oregon Health and Science University.
The scientists used a powerful gene editing tool called Crispr-Cas9 to fix mutations in embryos made with the sperm of a man who inherited a heart condition known as hypertrophic cardiomyopathy, or HCM. The disease, which leads to a thickening of the hearts muscular wall, affects one in 500 people and is a common cause of sudden cardiac arrest in young people.
Humans have two copies of every gene, but some diseases are caused by a mutation in only one of the copies. For the study, the scientists recruited a man who carried a single mutant copy of a gene called MYBPC3 which causes HCM.