News Excerpt:
Scientists have used a human gene editing tool, CRISPR-Cas9, to restore vision in people with a rare form of inherited or congenital blindness.
CRISPR gene editing brings ‘BRILLIANCE
- The trial was called “BRILLIANCE” and 12 adults and two children, who had a rare form of inherited blindness, known as Leber congenital amaurosis (LCA), participated in it.
- LCA affects about one in 40,000 people and causes severe vision loss at an early age.
- This blindness is caused by a gene mutation that prevents a protein from functioning properly.
- That protein CEP290 is critical for sight.
- Participants in the study received a single dose of a CRISPR gene therapy called EDIT-101.
- CRISPR-Cas9 is a precise way of altering DNA. It cuts out specific strands of DNA, the thing that makes us who we are and replaces them with new strands.
- In the case of EDIT-101, the treatment cuts out the mutation in CEP290 and inserts a healthy strand of DNA back into the gene.
- This restores normal function of the protein CEP290, allowing the retina to detect light.
- In 2020, Emmanuelle Charpentier and Jennifer A. Doudna were awarded the Nobel Prize in chemistry for discovering CRISPR-Cas9.
EDIT-101 gene therapy restores vision
- The BRILLIANCE study tested how well participants could see colored lights, navigate a small maze in varying amounts of light, and read from a chart after receiving the treatment.
- Almost all of the participants, except three, showed some level of visual improvements. Six participants had major improvements in vision-related quality of life and could identify objects and letters on a chart.
- According to the researchers, EDIT-101 caused no serious adverse side effects in participants. Some patients reported mild adverse effects which resolved quickly.
The future of CRISPR gene editing
- More than 200 people have been treated with experimental CRISPR technologies.
- But so far, only one CRISPR treatment has been approved for clinical use Casgevy, a treatment for sickle-cell disease which has been available in the US, the UK, and the EU since December 2023.
- Scientists have entered a new phase in genome editing technologies, which they say they can safely help and cure treat patients with a variety of diseases.
- Ongoing clinical trials are testing other CRISPR therapies for HIV/AIDS, diabetes, cancer, cardiovascular diseases, and antibiotic resistance.
