What to know about India’s pioneering national biobank for rare Lysosomal Storage Disorders

Researchers from 28 medical and research institutions across six states and two union territories have compiled the first government-supported national biobank of a sub-section of rare diseases called Lysosomal Storage Disorders (LSDs). Most of these diseases currently have no treatment at all, and the few that do have therapies that cost more than Rs 1 crore per patient per annum. The biobank integrates the biological samples of 530 patients from 15 states with detailed clinical, biochemical, and genetic information. It is already in use by at least two research centres working on developing cures. It is expected to aid in developing screening techniques and affordable treatments for children suffering from these life-threatening genetic diseases. India’s burden of patients with LSDs “Lysosomal storage disorders (LSDs) are a diverse group of over 70 rare, inherited metabolic conditions that present significant diagnostic and therapeutic challenges, especially in genetically diverse and resource-limited settings like India,” said Dr Harsh Sheth, Biobank and project coordinator. LSDs cause a buildup of toxic materials in the body’s cells. According to the Cleveland Clinic, patients with LSDs lack certain enzymes or the enzyme activator, a substance that helps the enzyme work. In their absence, the patient’s body fails to break down fats and sugars, which can accumulate and be harmful. Over 12,000 patients are estimated to be suffering from Lysosomal Storage Disorders across India. “There are treatments for only about 7% of rare diseases. Most patients who have treatable conditions also receive treatment intermittently, so they often lose their lives to these disorders,” Dr Jayesh Sheth, the biobank’s principal investigator, told The Indian Express. “Of the 530 patients, 60% have died. Of those surviving, only 8 are receiving treatment. Much work is required to develop therapies for these diseases.” Only eight patients from the 530-strong cohort are currently receiving any form of treatment. Four patients are being treated for Gaucher, two for Mucopolysaccharidosis type II (MPS II) or Hunter Syndrome, and one each for MPS IVA or Morquio A syndrome and Fabry disease. Scope of the biobank The biobank addresses the lack of a centralised clinical and genomic data registry for LSDs. This initiative is led by the Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics (FRIGE) in Ahmedabad, Gujarat, and funded by the Department of Biotechnology (DBT), Government of India. The current scope of the biobank was published as a study in the Orphanet Journal of Rare Diseases. It includes biological samples and clinical-genetic data from 530 patients from 15 states, including two pairs of siblings. Of these, 206 were female and 324 male. They were diagnosed with LSDs over 17 years (2008-2025). Of the total, 303 patients were drawn from private clinics, 140 from government hospitals and 87 from various Centres of Excellence (CoEs) for Rare Diseases. The biological samples include genomic DNA from blood, plasma, and urine precipitate, and were processed for enzyme and genetic investigations. The LSD biobank cohort encompasses 8 LSD subgroups across 27 disorders, with the most common being Gaucher disease (70), Tay-Sachs disease (62), Mucolipidosis (ML) II/III (44), and Morquio-A (40). The biobank in action The biobank has a centralised website which manages both biological and clinical sample data, enzyme activity details, and genetic information. This structured access model ensures that the biobank functions as a sustainable, high-quality national resource beyond the initial funding period. A collaborative effort has been initiated with the Tata Institute for Genetics and Society (TIGS), Bengaluru, which involves the use of biobank-derived samples to develop human stem cell–based disease models for rare genetic disorders. These stem cell-derived models are expected to facilitate the understanding of disease mechanisms and to serve as platforms for the development and evaluation of potential therapeutic interventions. Further, two government institutions have already said to have begun working using biobank data. According to Dr Harsh Sheth, the Hyderabad-based Institute for Stem Cell Science and Regenerative Medicine (inStem) is working on general therapies, while the Bengaluru-based Centre for DNA Fingerprinting and Diagnostics (CDFD) is working on developing screening technology using spectrometry-based assays. Brendan Dabhi works with The Indian Express, focusing his comprehensive reporting primarily on Gujarat. He covers the region's most critical social, legal, and administrative sectors, notably specializing at the intersection of health, social justice, and disasters. Expertise Health and Public Policy: He has deep expertise in healthcare issues, including rare diseases, Antimicrobial Resistance (AMR), the complex logistics of organ transplants, and public health challenges like drug-resistant TB and heat health surveillance. His on-ground reporting during the COVID-19 pandemic and Mucormycosis was critical in exposing healthcare challenges faced by marginalized communities in Gujarat. Social Justice and Legal Administration: He reports on the functioning of the legal and police system, including the impact of judicial philosophy, forensics and crucial administrative reforms (. He covers major surveillance and crackdown exercises by the Gujarat police and security on the international border. Disaster and Crisis Management: His work closely tracks how government and civic bodies respond to large-scale crises, providing essential coverage on the human and administrative fallout of disasters including cyclones, floods, conflict, major fires and reported extensively on the AI 171 crash in Ahmedabad. Civic Infrastructure and Governance: Provides timely reports on critical civic failures, including large scale infrastructure projects by the railways and civic bodies, as well as the enforcement of municipal regulations and their impact on residents and heritage. ... Read More