Gene Editing Therapy Used to Cure a Rare Disease

Syllabus: GS3/ Science & Technology

In News

• In a historic medical breakthrough, scientists in the United States have, for the first time, successfully used a personalized CRISPR-based gene-editing therapy to treat a rare genetic disorder Carbamoyl Phosphate Synthetase 1 (CPS1) deficiency in an infant.
  • CPS-1 Deficiency is a rare genetic metabolic disorder where the liver lacks an enzyme to convert toxic ammonia into urea, which is usually excreted through urine.

What is Gene Editing Therapy?

• Definition: 
  • Gene editing therapy refers to the deliberate alteration of DNA sequences within the cells of an individual to treat or cure genetic diseases. 
  • It involves modifying, deleting, or inserting specific genes at targeted locations in the genome to correct mutations or enhance cellular functions.
• Types of Gene Editing Techniques:
  • CRISPR-Cas9: Most widely used tool; cuts DNA at specific sites using guide RNA and Cas9 enzyme
  • Zinc Finger Nucleases (ZFNs): Uses engineered proteins to bind and cut DNA
  • Base Editing: Alters a single nucleotide without breaking DNA strands
  • Prime Editing: Acts like a ‘word processor’ to insert, delete, or replace DNA sequences
• Mechanism: 

Applications of Gene Editing Therapy

• Medicine: Treating genetic disorders like Sickle Cell Anaemia, Beta-Thalassemia, CPS-1 Deficiency.
• Engineering immune cells (CAR-T therapy) to target cancer
• Agriculture: Developing disease-resistant, high-yield crops
• Veterinary Science: Enhancing livestock traits

India’s Progress in Gene Editing

• CSIR-Institute of Genomics and Integrative Biology (IGIB) is developing indigenous CRISPR platform (IndiCRISPR).
• The Department of Biotechnology (DBT) is funding genome-editing research under the National Biopharma Mission.
• Gene Therapy Guidelines (2020): Issued to streamline ethical clinical application.

Challenges 

• Safety issues: Off-target effects, immune reactions, unintended mutations.
• Ethical concerns:  Germline editing (heritable changes), designer babies
• Limited access: High cost, availability limited to developed nations

Source: IE