India has established its 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 across 15 states.

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• India’s first national biobank for Lysosomal Storage Disorders (LSDs) has been established with support from the Department of Biotechnology (DBT).
• The initiative involves researchers from 28 medical and research institutions across six states and two Union Territories.
• The biobank integrates biological samples and comprehensive clinical, biochemical and genetic data of 530 patients.
• Lysosomal Storage Disorders are a group of over 70 rare inherited metabolic diseases caused by enzyme deficiencies.
• In the absence of specific enzymes, 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.
• Treatment options are limited and often cost over Rs 1 crore per patient annually.
• Nearly 60% of the 530 patients in the cohort have died, and only eight are currently receiving treatment.
• The initiative is led by the Foundation for Research in Genetics and Endocrinology (FRIGE), Institute of Human Genetics, Ahmedabad.
• The biobank covers 8 LSD subgroups across 27 disorders and has been published in the Orphanet Journal of Rare Diseases.
• Biological samples include genomic DNA from blood, plasma and urine precipitate for enzyme and genetic analysis.
• Common conditions recorded include Gaucher disease, Tay-Sachs disease, Mucolipidosis II/III and Morquio-A syndrome.
• The biobank operates through a centralised digital platform storing clinical and genomic data.
• Collaborating institutions include the Tata Institute for Genetics and Society (TIGS), Institute for Stem Cell Science and Regenerative Medicine (inStem), and Centre for DNA Fingerprinting and Diagnostics (CDFD).
• The initiative aims to accelerate early diagnosis, develop indigenous therapies and reduce treatment costs.