India has established its first government-supported national biobank for Lysosomal Storage Disorders (LSDs), a group of rare inherited metabolic diseases with severe diagnostic and treatment challenges. The biobank brings together biological samples and detailed clinical, biochemical and genetic data from 530 patients across 15 states. It is expected to support screening methods, disease research and the development of more affordable therapies for children affected by these life-threatening disorders.
What the Biobank Covers
The biobank focuses on LSDs, which are caused by enzyme deficiencies that lead to the accumulation of toxic substances in cells. These disorders include more than 70 rare conditions. In India, the estimated patient burden exceeds 12,000. The current biobank cohort covers 8 LSD subgroups across 27 disorders.
- Gaucher disease was the most common disorder in the cohort.
- Other major conditions included Tay-Sachs disease, Mucolipidosis II/III and Morquio-A.
- The samples include genomic DNA from blood, plasma and urine precipitate.
Institutional and Scientific Framework
The initiative is led by the Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics (FRIGE), Ahmedabad, and is funded by the Department of Biotechnology, Government of India. The biobank integrates data collected over 17 years, from 2008 to 2025, and includes patients from private clinics, government hospitals and Centres of Excellence for Rare Diseases.
Clinical Significance and Treatment Gap
LSDs remain difficult to treat. Most have no approved treatment, and the few available therapies are extremely expensive, often costing more than Rs 1 crore per patient per year. In the 530-patient cohort, 60% had died, while only 8 patients were receiving treatment. This marks the urgent need for early diagnosis, better access to care and indigenous therapy development.
Research Use and Future Applications
The biobank is already being used by research centres working on rare disease solutions. A collaboration with the Tata Institute for Genetics and Society, Bengaluru, is using biobank-derived samples to develop human stem cell-based disease models. The Institute of Stem Cell Science and Regenerative Medicine, Hyderabad, is working on general therapies, while the Centre for DNA Fingerprinting and Diagnostics, Bengaluru, is developing screening technology using spectrometry-based assays.
Last Modified: April 28, 2026