SKIMS makes significant contribution to GenomeIndia Data

Srinagar, Jan 10: With the newly released GenomeIndia Data, it is now possible to predict genetic predispositions to diseases, prevent genetic disorders, and develop advanced precision treatments for the population of J&K.

Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, has made a significant contribution to this landmark initiative, which aims to transform healthcare through genomics.

The massive genomic data of 10,000 Indians has been compiled into 8 petabytes and e-released on Thursday by Prime Minister Narendra Modi. In a video message at Genomics Data Conclave in New Delhi, he highlighted the project's transformative potential for personalised medicine and biotechnology.

Speaking about the importance of the databank, especially in relation to J&K, Prof Mohd Ashraf Ganie, Director SKIMS & EOSG said, “The GenomeIndia Data offers immense potential to enable precise identification of genetic variants linked to specific diseases and enhance understanding of regional susceptibilities and guide therapeutic development.” Prof Ganie has led the project at SKIMS. In addition, he said, it will facilitate early detection and prevention of in-fetus genetic abnormalities and support targeted treatments for hereditary conditions. The insights from genomic analysis are expected to revolutionize healthcare by identifying late-manifesting genetic disorders and providing a foundation for pharmaco-genomics and personalised medicine.

The cultural practice of consanguinity (marriages between close relatives) prevalent to some extent in J&K has raised questions about its impact on the region’s genetic pool. The GenomeIndia database provides a unique opportunity to explore whether this practice predisposes the population to specific genetic disorders.

Prof Ganie emphasised the importance of this research, noting, “Understanding the genetic implications of consanguinity is crucial. This data will help us identify and address predispositions to genetic disorders, enabling the development of targeted interventions and preventive healthcare strategies.”

SKIMS has made a significant contribution by sampling and phenotyping 1,274 individuals from the Jammu, Kashmir, and Ladakh regions. The cohort included Kashmiri Pandits (N=326), Kashmiri Muslims (N=326), Dogras (N=326), Gujjar-Bakarwals (N=148) and Baltis (N=148).

The J&K project part was led by Prof Ganie and supported by Co-Investigators Prof Bashir Ahmad Charoo, Dr Mahrukh Hameed Zargar, and Dr Imtiyaz Ahmad Wani. The contribution highlights the unique genetic diversity of the region. The samples underwent rigorous investigations at SKIMS before sequencing at IGIB Delhi and CBR Bangalore.

Prof. Ganie remarked, “This is a proud moment for SKIMS and Jammu and Kashmir. The GenomeIndia database not only provides insights into the genetic predisposition of our region’s population but also enables targeted healthcare strategies to predict, prevent, and protect future generations from genetic disorders.”

The GenomeIndia database is accessible to researchers through the newly launched ‘Framework for Exchange of Data (FeED) Protocols’, which ensures responsible and transparent data sharing under DBT’s Biotech-PRIDE Guidelines. Dr. Jitendra Singh, Hon’ble Minister of Science & Technology (IC), inaugurated the FeED Protocols and the IBDC Portals for Data Access, further empowering the scientific community.

The project involves 20 premier institutions, including CSIR-CCMB, Hyderabad, IGIB, Delhi, National Institute of Biomedical Genomics, Kalyani, AIIMS Jodhpur, IISER Pune, NCBS Bengaluru and RGCB Trivandrum. Eminent scientists such as Prof. Vijayalakshmi Ravindranath, Dr. Mohammed Faruq, and Dr. Madhvi Joshi led collaborative efforts, ensuring the project's success.

With plans to expand gene analysis to 1.5 million genomes, the initiative is set to deepen our understanding of India’s genetic landscape, Prof Ganai said. This data will be instrumental in policy development, future research, and the evolution of precision medicine in India.