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Leber Congenital Amaurosis

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.