ADVANCES IN GENE THERAPY FOR STARGARDT DISEASE

GS3 – SCIENCE & TECH 

Overview

Stargardt disease, a rare genetic eye condition causing progressive vision loss in children and young adults, may soon see effective treatments. Researchers from the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, and Beam Therapeutics have developed a promising gene therapy approach.

About Stargardt Disease

• Characteristics: Stargardt disease, or Stargardt macular degeneration, is bilateral and linked to excessive lipofuscin accumulation in the macula.
• Genetic Basis: Often caused by mutations in the ABCA4 gene, critical for Vitamin A metabolism.
• Current Status: No available cure exists for this condition.

Innovative Gene Editing Approach

• Technique: An adenine base editor, a precise genome editing tool, was used.
• Delivery System: Delivered via an adeno-associated viral vector (AAV), which does not integrate into the host genome.
• Outcome: Successfully corrected ABCA4 gene mutations in model organisms.

Key Research Findings

• High levels of gene correction observed in mice and nonhuman primates.
• No off-target effects, ensuring high specificity and safety.
• Potential for application in treating other ocular diseases through similar strategies.

Stargardt Disease in India

• Prevalence: Affects 1 in 8,000 to 10,000 individuals, with a higher incidence in males.
• Symptoms: Often appear during the second decade of life.
• Contributing Factors: Family history and parental consanguinity are common in many cases.