In a landmark achievement, the Department of Biotechnology (DBT) on 27 February, 2024, announced the completion of the ambitious '10,000 Genomes Project'. This pioneering initiative, aimed at creating a reference database of whole-genome sequences representative of India's diverse population, marks a significant step towards personalized medicine and targeted healthcare solutions tailored for the Indian demographic.
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What is '10,000 Genomes Project'?
The '10,000 Genomes Project', conceptualized under the National Biotechnology Development Strategy 2015-20, was initiated with the lofty goal of mapping the genetic diversity of India's population.
Since sequencing its first whole human genome in 2006, India has recognized the urgent need to create a comprehensive genomic database reflective of its population's diversity.
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This initiative was propelled by a collaboration involving around 20 institutions, with the Indian Institute of Science (IISc), Bengaluru, and the Centre for Cellular and Molecular Biology, Hyderabad, at the helm.
The '10,000 Genomes Project' was executed through a hub-and-spoke model, leveraging the strengths of three anchor institutes – the CSIR Institute of Genomics and Integrative Biology (IGIB) in New Delhi, the IISER Regional Centre for Genomic Technologies (RCGT) in Bhopal, and the Institute of Life Sciences (ILS) in Bhubaneswar.
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This collaborative model facilitated the collection of ethnically relevant biospecimens from across the country, adhering to common protocols for sample quality and analysis, and ensuring the project's success.
The project meticulously sequenced 10,010 genomes from individuals across 1,014 sub-populations and tribes from all 28 states and 9 union territories, making it the world's first ethnically relevant genome database at this scale.
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What is the need for the 10,000 Genomes Project?
With over 1.3 billion inhabitants comprising more than 4,600 distinct population groups, many of which are endogamous (Matrimony in Close Ethnic Groups), and these groups have unique genetic variations and disease-causing mutations that cannot be compared to Western world populations. Therefore, India presents a unique challenge and opportunity for genetic research.
Objectives
The primary objective was to create a comprehensive genomic database that accurately reflects the genetic diversity of the Indian population. This would enable researchers to identify population-specific genetic variants influencing disease susceptibility, thereby aiding in the development of precision medicine and targeted healthcare interventions.
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Significance
The successful completion of the '10,000 Genomes Project' is a monumental achievement with far-reaching significance. As the first ethnically relevant genome database of its scale, it positions India among the elite group of countries with indigenous genomic information at the population level.
This data is invaluable for understanding genetic diseases prevalent in Indian sub-groups, enabling preventive healthcare policies, and driving research in genomics, precision medicine, and agriculture.
By mapping unique genetic variants linked to diseases such as diabetes, cancer, and heart disorders, the project opens up possibilities for the development of targeted drugs, diagnostics, and treatment protocols optimized for Indian sub-groups. This could lead to a paradigm shift in the healthcare ecosystem, making treatments more effective and reducing the incidence and severity of genetic diseases in the Indian population.
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