NEWS – 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)

UNDERSTANDING LEBER CONGENITAL AMAUROSIS (LCA)

• Rare Genetic Disorder: Affects infants, causing blindness at birth due to malfunctioning light-gathering cells in the retina.
• Genetic Cause: Mutation in the CEP290 gene disrupts the critical protein necessary for sight.
• Prevalence: Affects approximately one in 40,000 people, leading to severe vision loss early in life.

RECENT BREAKTHROUGH

• CRISPR-Cas9 Trial: Scientists conducted the “BRILLIANCE” trial using the CRISPR-Cas9 gene-editing tool.
• Treatment: Participants received a single dose of CRISPR gene therapy known as EDIT-101.
• Mechanism: EDIT-101 removes the CEP290 gene mutation and replaces it with a healthy DNA strand, restoring normal protein function and enabling light detection in the retina.

CRISPR-CAS9 TECHNOLOGY

• Genetic Editing Tool: Facilitates precise editing of the genome by adding, removing, or altering DNA sections.
• Applications: Widely used in genetic research and medical interventions for treating various genetic disorders.
• Potential: Offers promising avenues for developing targeted therapies for genetic conditions, including vision-related disorders like LCA.