India Launches First National Biobank For LSD Rare Diseases

Researchers from 28 medical and research institutions across six states and two Union Territories have established India’s first government-supported national biobank dedicated to Lysosomal Storage Disorders (LSDs). The initiative integrates biological samples and detailed clinical, biochemical and genetic data of 530 patients from 15 states.

Funded by the Department of Biotechnology (DBT), the biobank aims to support the development of affordable screening tools and therapies for children affected by these life-threatening genetic disorders.

Understanding Lysosomal Storage Disorders

Lysosomal Storage Disorders are a group of over 70 rare, inherited metabolic conditions caused by the deficiency of specific enzymes. In the absence of these enzymes or their activators, fats and sugars accumulate inside cells, leading to progressive organ damage.

More than 12,000 patients in India are estimated to be living with LSDs. Currently, treatments exist for only a small fraction of rare diseases, and available therapies often cost over Rs 1 crore per patient annually. Of the 530 patients in the biobank cohort, nearly 60% have died, and only eight are receiving treatment.

Scope And Structure Of The Biobank

The initiative is led by the Foundation for Research in Genetics and Endocrinology (FRIGE), Institute of Human Genetics, Ahmedabad. Published in the Orphanet Journal of Rare Diseases, the biobank covers 8 LSD subgroups across 27 disorders.

Biological samples include genomic DNA from blood, plasma and urine precipitate, processed for enzyme and genetic analysis. The most common conditions recorded are Gaucher disease (70 cases), Tay-Sachs disease (62), Mucolipidosis II/III (44) and Morquio-A syndrome (40).

Research And Therapeutic Development

The biobank operates through a centralised digital platform that stores clinical and genomic data. It is already being utilised by research institutions to develop therapies and screening tools.

Collaborations include work with the Tata Institute for Genetics and Society (TIGS) in Bengaluru to create human stem cell-based disease models. The Institute for Stem Cell Science and Regenerative Medicine (inStem) is developing general therapeutic approaches, while the Centre for DNA Fingerprinting and Diagnostics (CDFD) is working on spectrometry-based screening technologies.

Important Facts for Exams

• Lysosomal Storage Disorders are inherited metabolic diseases caused by enzyme deficiencies.
• Department of Biotechnology (DBT) funds biomedical research under the Government of India.
• Stem cell-based disease models help study genetic disorders and test therapies.
• Rare diseases often require high-cost enzyme replacement therapies.

National Impact And Future Outlook

By centralising data and biological samples, the biobank addresses the long-standing gap in coordinated rare disease research in India. It is expected to accelerate early diagnosis, enable indigenous therapy development and reduce treatment costs over time.

The initiative marks a significant step towards strengthening India’s rare disease research ecosystem and improving outcomes for affected families.