India's Pioneering National Biobank for Rare Lysosomal Storage Disorders
India has launched its first government-supported national biobank dedicated to a subset of rare diseases known as Lysosomal Storage Disorders (LSDs). This groundbreaking initiative integrates biological samples and comprehensive data from 530 patients across 15 states, collected from 28 medical and research institutions. The biobank aims to accelerate the development of treatments and screening methods for these life-threatening genetic conditions, which currently lack affordable therapies.
Addressing the Burden of Rare Diseases
Lysosomal Storage Disorders are a group of over 70 rare, inherited metabolic conditions that pose significant diagnostic and therapeutic challenges, particularly in genetically diverse and resource-limited settings like India. These disorders occur due to a deficiency in enzymes or enzyme activators, leading to the accumulation of toxic materials in cells, which can be fatal. Estimates suggest over 12,000 patients in India suffer from LSDs, yet treatments exist for only about 7% of rare diseases.
Dr. Harsh Sheth, the biobank and project coordinator, emphasized the critical need for this resource. "LSDs present significant diagnostic and therapeutic challenges, especially in genetically diverse and resource-limited settings like India," he stated. The biobank addresses the lack of a centralized clinical and genomic data registry, providing a sustainable platform for research beyond initial funding periods.
Current Treatment Landscape and Patient Data
Of the 530 patients in the biobank cohort, 60% have died, highlighting the severity of these disorders. Alarmingly, only eight patients are currently receiving treatment:
- Four patients with Gaucher disease
- Two patients with Mucopolysaccharidosis type II (Hunter Syndrome)
- One patient with MPS IVA (Morquio A syndrome)
- One patient with Fabry disease
Dr. Jayesh Sheth, the principal investigator, noted, "Most patients who have treatable conditions also receive treatment intermittently, so they often lose their lives to these disorders. Much work is required to develop therapies for these diseases." The high cost of existing therapies—often exceeding Rs 1 crore per patient annually—further exacerbates the crisis.
Scope and Implementation of the Biobank
Led by the Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics (FRIGE) in Ahmedabad, and funded by the Department of Biotechnology, Government of India, the biobank includes:
- Biological samples such as genomic DNA from blood, plasma, and urine precipitate
- Detailed clinical, biochemical, and genetic information from patients diagnosed over 17 years (2008-2025)
- Data from 206 female and 324 male patients, including two pairs of siblings
The cohort encompasses eight LSD subgroups across 27 disorders, with the most common being Gaucher disease (70 patients), Tay-Sachs disease (62 patients), Mucolipidosis II/III (44 patients), and Morquio-A (40 patients). Samples were sourced from private clinics (303 patients), government hospitals (140 patients), and Centers of Excellence for Rare Diseases (87 patients).
Collaborative Research and Future Applications
The biobank is already in use by multiple research institutions, fostering collaborations to develop innovative solutions:
- Tata Institute for Genetics and Society (TIGS), Bengaluru: Utilizing biobank samples to create human stem cell-based disease models for understanding mechanisms and evaluating therapies.
- Institute for Stem Cell Science and Regenerative Medicine (inStem), Hyderabad: Working on general therapies using biobank data.
- Centre for DNA Fingerprinting and Diagnostics (CDFD), Bengaluru: Developing screening technology through spectrometry-based assays.
A centralized website manages the biobank's data, ensuring structured access and sustainability. This initiative, published in the Orphanet Journal of Rare Diseases, represents a significant step forward in India's fight against rare diseases, offering hope for affordable treatments and improved screening techniques for future generations.
