India Launches National Biobank for Lysosomal Storage Disorders (LSDs)

India has launched its first government-supported national biobank for Lysosomal Storage Disorders, integrating data and samples of 530 patients across 15 states.

National Biobank for Lysosomal Storage Disorders (LSDs)

• India has established a pioneering national biobank dedicated to Lysosomal Storage Disorders to strengthen research, diagnosis, and affordable therapy development for rare genetic diseases.
• Nodal Body: The biobank is led by the Foundation for Research in Genetics and Endocrinology (FRIGE), Ahmedabad, and funded by the Department of Biotechnology (DBT), Government of India.
• Key Features
  • Integrated Patient Repository: The biobank consolidates biological samples and detailed clinical, biochemical, and genetic data of 530 patients collected from 28 institutions across multiple states over 17 years.
  • Diverse Disease Coverage: The repository covers 27 disorders under 8 LSD subgroups, including Gaucher disease, Tay-Sachs disease, Mucolipidosis II/III, and Morquio A syndrome.
  • Digital Access System: A centralized digital platform manages genomic DNA, plasma, urine samples, enzyme activity details, and genetic information to ensure sustainable, research-oriented access.

Explore Degree Courses

Explore Degree Courses

About Lysosomal Storage Disorders (LSDs)

• Lysosomal Storage Disorders are a group of over 70 rare inherited metabolic conditions caused by enzyme deficiencies that impair cellular waste breakdown.
• Impact on Health: The absence of specific enzymes leads to toxic accumulation of fats and sugars in cells, causing progressive organ damage, disability, and high childhood mortality.
• Treatment Challenges: Only about 7% of rare diseases have approved therapies, and available treatments for LSDs often cost over ₹1 crore annually, limiting patient access.

Significance of the Biobank

• Accelerating Therapy Development: The centralized repository enables researchers to develop stem cell–based disease models and explore gene and enzyme replacement therapies.
• Improving Early Screening: Institutions such as inStem and CDFD are using biobank data to design advanced spectrometry-based screening tools for early detection.
• Reducing Treatment Costs: Domestic research based on Indian genomic diversity can promote affordable, locally developed therapeutic solutions.
• Strengthening Rare Disease Policy Framework: The biobank addresses the long-standing gap of a national clinical-genomic registry, supporting evidence-based policymaking and rare disease management in India.

Check Out UPSC CSE Books

Visit PW Store

Conclusion

India’s national LSD biobank marks a transformative step in rare disease management by enabling indigenous research, improving diagnosis, and paving the way for affordable, life-saving therapies for vulnerable patients.

DOWNLOAD PDF