India Establishes First National Biobank for Rare LSDs

DBT-Backed Biobank Advances Rare Disease Research

India has established its first government-supported national biobank dedicated to Lysosomal Storage Disorders (LSDs) , marking a major advance in rare disease research. The initiative integrates biological samples alongside detailed clinical, biochemical, and genetic data from 530 patients spanning multiple states. It is funded by the Department of Biotechnology (DBT).

Lysosomal Storage Disorders: Clinical Significance

Lysosomal Storage Disorders constitute a group of inherited metabolic diseases caused by enzyme deficiencies. These enzymatic failures lead to intracellular accumulation of lipids and complex sugars, triggering progressive organ dysfunction. Despite affecting thousands of patients, treatment options remain limited and costly, often involving enzyme replacement therapies.

Structure and Research Utility

The biobank is coordinated by the Foundation for Research in Genetics and Endocrinology (FRIGE), Ahmedabad. Biological materials — including genomic DNA, plasma, and urine-derived samples — are preserved for enzyme assays and genomic analysis. The repository covers multiple LSD subgroups, enabling systematic research on disease mechanisms.

Conditions such as Gaucher disease, Tay-Sachs disease, Mucolipidosis II/III, and Morquio-A syndrome represent prominent components of the dataset.

Driving Indigenous Therapeutic Development

A centralised digital platform supports clinical-genomic integration, facilitating collaborative research. Partner institutions are employing advanced methodologies, including stem cell-based disease models, spectrometry-driven screening technologies, and experimental therapeutic strategies.

Such integration accelerates biomarker discovery, improves diagnostic pipelines, and supports cost-effective treatment innovation.

National Healthcare Implications

By consolidating patient data and biospecimens, the initiative addresses a critical gap in India’s rare disease research infrastructure. It is expected to improve early diagnosis, reduce therapy costs, and strengthen precision medicine approaches.

Exam-Focused Points

• LSDs = Inherited enzyme-deficiency disorders

• Funded by Department of Biotechnology (DBT)

• Biobanks enable genomic & clinical research integration

• Stem cell models assist therapy development

• Rare diseases often involve high-cost treatments