Researchers from ShanghaiTech University and the Third Affiliated Hospital of Guanzhou Medical University have successfully used a new form of CRISPR-Cas9 genome editing technology to edit out a gene containing Marfan syndrome, a debilitating and even potentially fatal genetic disorder affecting the body's connective tissue.
Presently, if a person is afflicted with Marfan syndrome, there is a 50/50 chance that his or her child will be, too. The genetic disorder affects roughly 1 in 5,000 people.
In research aimed at changing that, Chinese scientists using a CRISPR-Cas9 technique known as base editing successfully corrected the single mistaken DNA letter in 16 out of 18 attempts using viable human embryos, which can actually be implanted into a uterus and given birth to.
This is a notable difference from earlier research into embryo editing, which normally used discarded, mutated or otherwise damaged embryos which had no chance of being born.
The research, published last month in the scientific journal Molecular Therapy, is an effective proof of principle, and has tremendous potential to benefit humanity, according to the scientists.
"This study may provide a potential gene therapy for Marfan syndrome patients with this kind of pathogenetic mutation," Dr. Huang Xingxu, genetics professor and one of the study's lead authors, said. "This treatment will benefit the children of patients with genetic diseases," the scientist added.
"Overall, this pilot study provided proof of concept, and opened the potential of base editing-based gene therapy," Dr. Huang noted. The scientist cautiously added however that "nevertheless, there is still a long way to go to use it in [in vitro fertilization] clinics."
The team is now working on using the base-editing technique to tackle other disease-causing mutations.