Ahmedabad: The city recently got the national biobank for lysosomal storage disorders at the FRIGE Institute of Human Genetics. 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.Dr Jayesh Sheth, chairman of the institute and lead researcher, said that this is the first national biobank for rare diseases that will facilitate new drug discovery, new drug targets, and novel diagnostic tech development.
“This will also help to understand the genetic signature of the rare diseases. The LSD biobank cohort encompasses eight LSD subgroups across 27 disorders, with the most common being Gaucher disease, Tay-Sachs disease, Mucolipidosis (ML) II/III, and Morquio-A (n = 40). Samples originated from 15 Indian states, with a predominance of paediatric cases. Detailed phenotypic, enzymatic, and genomic profiles were generated,” he said.The study includes biological samples and clinical-genetic data from 530 patients from a 17-year period (2008-2025). Biological samples, including genomic DNA from blood, plasma, and urine precipitate, were processed for enzyme and genetic investigations, said researchers.The disorders are marked by enzyme deficiencies that lead to toxic build-up in cells. The progression affects multiple organs, including the brain, liver, spleen, and skeleton.
