NewKerala.com

Gujarat Biobank Pioneers India's Fight Against Rare Genetic Disorders

A Gujarat-based institute has established India's first national biobank dedicated to rare Lysosomal Storage Disorders. The repository at FRIGE's Institute of Human Genetics in Ahmedabad contains samples and clinical data from over 530 patients collected over 22 years. It integrates DNA data with clinical profiles to identify mutations and accelerate the development of affordable diagnostic kits and gene therapies. The initiative, supported by government funding, aims to tackle treatment costs that can exceed Rs 1 crore annually and bolster India's self-reliance in advanced medical research.

Key Points: India's First National Biobank for Rare Diseases in Gujarat

  • First national biobank for rare disorders in India
  • Holds data from over 530 patients
  • Aims for affordable diagnosis and treatment
  • Supports indigenous gene therapy research
  • Funded by Gujarat State Biotechnology Mission
2 min read

Gujarat-Based Biobank powers India's fight against rare diseases

Ahmedabad institute launches national biobank for Lysosomal Storage Disorders, offering hope for affordable diagnosis and gene therapy in India.

"This is the first such biobank in India designed not only for research but also to support treatment and long-term healthcare outcomes. - Dr Harsh Sheth"

Ahmedabad, March 25

In a significant step towards tackling rare genetic disorders, a Gujarat-based institute has established India's first national biobank dedicated to rare Lysosomal Storage Disorders, offering new hope for affordable diagnosis and treatment.

The facility, housed at the FRIGE's Institute of Human Genetics in Ahmedabad, has been developed over the past 22 years. Backed by government funding, the biobank brings together patient samples and detailed clinical data, enabling researchers to identify genetic mutations and work towards cost-effective diagnostic and therapeutic solutions.

Dr Harsh Sheth, Associate Professor at the institute, said the biobank currently holds data from over 530 patients, including serum, plasma, whole blood genomic DNA samples, and urine precipitates. He added that the repository also includes detailed mutation data related to lysosomal storage disorders, making it a comprehensive resource for research and future patient care.

He further noted that this is the first such biobank in India designed not only for research but also to support treatment and long-term healthcare outcomes for patients suffering from these disorders.

By integrating DNA data with clinical profiles, the biobank plays a crucial role in identifying disease-causing mutations and accelerating the development of indigenous solutions. Researchers are also working on affordable diagnostic kits and advancing gene therapy approaches with support from the Gujarat State Biotechnology Mission (GSBTM).

Dr Sheth highlighted that around a decade ago, the Gujarat government initiated funding support for biotechnology research in rare diseases under GSBTM. The institute was among the first to receive this support for lysosomal disorder research and the creation of the biobank.

He added that in 2019, the institute received special funding that enabled the development of India's first molecular probe-based sequencing asset for such disorders. This advancement has made it possible to carry out comprehensive diagnosis for as many as 19 lysosomal storage disorders.

With treatment costs for such conditions often exceeding Rs1 crore annually, the focus remains on making healthcare more affordable and accessible. The initiative is also contributing to India's push for self-reliance in advanced medical research while strengthening Gujarat's position as a hub for genetic innovation.

- ANI

Share this article:

Reader Comments

A
Arjun K
A national biobank is long overdue. The fact that it's designed for both research AND patient care is the key. Too often, research stays in labs. Integrating DNA data with clinical profiles can revolutionize how we approach rare diseases. Hope this model is replicated for other conditions.
R
Rohit P
Treatment costs exceeding 1 crore per year is simply unthinkable for 99% of Indian families. This is where government funding in biotech is so crucial. The GSBTM support seems to have been instrumental. More states need to have such focused missions for healthcare innovation.
S
Sarah B
As someone who works in global health, I'm impressed. Building a repository of over 530 patient samples with detailed data is a massive undertaking. The focus on indigenous solutions and affordable diagnostic kits is exactly what's needed. This is how we bridge the healthcare gap.
V
Vikram M
This is fantastic news, but a small note of caution. I hope the data privacy of the patients is given utmost importance. Biobanks are powerful, but they must have robust ethical frameworks. Otherwise, a great step for Atmanirbhar Bharat in medicine!
K
Kavya N
Heartening to read this. Rare diseases often get ignored because they affect a smaller number of people. But for those families, it's their entire world. Making diagnosis possible for 19 disorders is a huge leap. Wishing the researchers all the best. More power to you!

We welcome thoughtful discussions from our readers. Please keep comments respectful and on-topic.

Leave a Comment

Minimum 50 characters 0/50