Scientists at the Salk Institute in collaboration with colleagues in Oregon and South Korea have succeeded in correcting a disease-causing mutation in human embryos through gene editing.
The breakthrough, announced Wednesday in the journal Nature, corrected the mutation for a heart condition at the earliest stage of embryonic development so that the defect would not be passed on to future generations.
The technique could be used through in vitro fertilization to cure thousands of diseases caused by mutations in single genes.
“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,” said Juan Carlos Izpisua Belmonte, a professor in Salk’s Gene Expression Laboratory and a corresponding author of the paper.
“Gene editing is still in its infancy, so even though this preliminary effort was found to be safe and effective, it is crucial that we continue to proceed with the utmost caution, paying the highest attention to ethical considerations,” he added.
The scientists focused on hypertrophic cardiomyopathy, the most common cause of sudden death in otherwise healthy young athletes. It is caused by a mutation in the MYBPC3 gene, but often goes undetected until it is too late.
Since people with a mutant copy of the MYBPC3 gene have a 50 percent chance of passing it on to their own children, being able to correct the mutation in embryos would prevent the disease not only in affected children, but also in their descendants.
Though gene-editing could potentially cure a number of diseases — including various cancers, sickle cell anemia, Tay-Sachs and cystic fibrosis — scientists have proceeded cautiously to avoid introducing unintended mutations.
“Our results demonstrate…