A Gujarat-based institute has established India’s first national biobank dedicated to rare Lysosomal Storage Disorders (LSDs), marking a key development in addressing rare genetic disorders.
The facility, located at the FRIGE’s Institute of Human Genetics in Ahmedabad, has been developed over 22 years with government funding. It consolidates patient samples and detailed clinical data, enabling researchers to identify genetic mutations and pursue cost-effective diagnostic and therapeutic solutions.
Dr Harsh Sheth, Associate Professor at the institute, said the biobank holds data from over 530 patients, including serum, plasma, whole blood genomic DNA samples, and urine precipitates. He stated, “The repository also includes detailed mutation data related to lysosomal storage disorders, making it a comprehensive resource for research and future patient care.”
He added that this biobank is the first in India to be designed not only for research but also to support treatment and long-term healthcare outcomes for patients with these disorders.
By integrating DNA data with clinical profiles, the biobank plays a vital role in identifying disease-causing mutations and accelerating the development of indigenous solutions. Researchers are also developing affordable diagnostic kits and advancing gene therapy approaches with support from the Gujarat State Biotechnology Mission (GSBTM).
Dr Sheth noted that about a decade ago, the Gujarat government initiated funding for biotechnology research in rare diseases under GSBTM. The institute was among the first recipients of this support for lysosomal disorder research and the establishment of the biobank.
In 2019, the institute received special funding enabling the development of India’s first molecular probe-based sequencing asset for such disorders. This advancement allows for comprehensive diagnosis of up to 19 lysosomal storage disorders.
With treatment costs for these conditions often exceeding Rs1 crore annually, the initiative aims to make healthcare more affordable and accessible. It also contributes to India’s efforts towards self-reliance in advanced medical research while reinforcing Gujarat’s role as a centre for genetic innovation.