Leber Congenital Amaurosis:
Researchers have used a CRISPR-Cas9 tool to restore vision in a group of adults and children with congenital blindness known as Leber congenital amaurosis (LCA).
- Leber Congenital Amaurosis is a rare genetic eye disorder affected infants are often blind at birth. Children born with LCA have light-gathering cells (rods and cones) of the retina that do not function properly.
- It 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.
- Scientists used a human gene editing tool, CRISPR-Cas9, to restore vision of people who are affected by this disorder and the trial was called “BRILLIANCE”.
- Participants in the study received a single dose of a CRISPR gene therapy called EDIT-101.
- 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.
- CRISPR-Cas9 is a unique technology that enables geneticists and medical researchers to edit parts of the genome by removing, adding or altering sections of the DNA sequence.
