Leber Congenital Amaurosis

About Leber Congenital Amaurosis:

• It 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.

• Recent development:
  • 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.

What is CRISPR-Cas9?

• It 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.