India launches first national biobank for Lysosomal Storage Disorders

Key facts

• The Department of Biotechnology (DBT), Government of India, funds the national biobank for Lysosomal Storage Disorders (LSDs) led by the Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics (FRIGE) in Ahmedabad, Gujarat.
• The biobank integrates biological samples and clinical-genetic data of 530 patients from 28 institutions across 15 states collected over 17 years (2008-2025).
• Of the 530 patients, 60% have died and only 8 are currently receiving treatment: 4 for Gaucher disease, 2 for Mucopolysaccharidosis type II (MPS II), 1 for MPS IVA, and 1 for Fabry disease.
• The biobank covers 8 LSD subgroups encompassing 27 disorders, with Gaucher disease (70), Tay-Sachs disease (62), Mucolipidosis II/III (44), and Morquio-A (40) as the most common.
• Collaborations include the Tata Institute for Genetics and Society (TIGS), Bengaluru, for stem cell-based disease models, the Institute for Stem Cell Science and Regenerative Medicine (inStem), Hyderabad, for general therapies, and the Centre for DNA Fingerprinting and Diagnostics (CDFD), Bengaluru, for spectrometry-based screening technology.