Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

ABSTRACT:

Background

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. To address the lack of a centralized clinical and genomic data registry for LSDs, we established the first government-supported national LSDs biobank in India. This study describes the infrastructure, sample collection, storage procedures, ethical framework, and expected impact of the biobank on research, diagnostics, and patient care.

Methods

The study includes biological samples and clinical-genetic data from 530 patients, (526 unrelated individuals and 2 sibling pairs), over a 17-year period (2008-2025). Biological samples

SUBMITTER: Sheth J 

PROVIDER: S-EPMC12918591 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature