DBT selects Pune as clinical sample collection site for GenomeIndia project, to tap four Maharashtrian sub-groups

Under this project, scientists will identify genetic variation leading to different traits in Indians.

Genome India Project, gene-mapping project, gene-mapping, gene-mapping in India, gene-mapping project in India, India news, Indian Express

In a country of 1.3 billion people, there are approximately 4,500 well-defined ethnic groups. (Source: Pixabay)

THE DEPARTMENT of Biotechnology (DBT) has identified Pune as a key centre in Maharashtra under the landmark ‘GenomeIndia’ project. Under this project, scientists will identify genetic variation leading to different traits in Indians. A total of 10,000 genetic samples have to be collected across India in the next two years and, in Pune, scientists are looking at four major Maharashtrian sub-groups to be recruited for the research project.

“This is the first large effort in the country to catalogue genetic diversity by doing whole genome sequencing of representative communities across India,” Prof Vijayalaxmi Ravindranath, national coordinator of GenomeIndia Project, told The Indian Express.

In a country of 1.3 billion people, there are approximately 4,500 well-defined ethnic groups, and this diversity also implies that biomedical research from other populations of the world cannot be merely extrapolated for Indians.

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The DBT has chosen Centre for Translational Cancer Research (CTCR, an initiative of IISER Pune and Prashanti Cancer Care Mission) as a clinical sample collection site from the state. Dr Santosh Dixit, senior scientist at CTCR and co-principal investigator on the GenomeIndia project, said the first phase of the ambitious project was underway and approximately 1,200 healthy participants from four major Maharashtrian sub-groups (Maratha, Deshastha Brahmins, Koknastha Brahmins and Koli) would be recruited in the research project from Pune regions as well as other parts of the state.

“The participants should be healthy and aged between 18 and 70. After taking informed written consent and 30 to 45 minutes for data and blood sample collection, they will also receive a complete health check-up for free with signed laboratory reports,” Dr Dixit said.

He also said the CTCR team was now conducting multiple study camps across Pune city to avoid commuting amid the Covid-19 pandemic, and that for study volunteer participation, they were reaching out to several individuals and organisations from the city, ranging from public to private sectors representing all professions. He also made an appeal to the younger generations to take part in this “national mission” project.

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The Human Genome Project showed that the human genome was made of 3.2 billion pairs of nucleotide base pairs, said Prof L S Shashidhara, professor and dean (research), Ashoka University, and professor at IISER Pune, who is also co-principal investigator on the GenomeIndia project.

“But we all have distinct genetic identity. As we diverge in our lineages, these variations increase. Such heterogeneity plays an important role in inherited traits, susceptibility to diseases, response to drugs and helps track our anthropologic history and evolution patterns,” Prof Shashidhara said.

“Officially launched in January, this project has created a national consortium involving 22 premier national institutes from different locations across India. Experts from various scientific domains such as medicine, clinical research, anthropology, genomics, genetics, data sciences and information technology are contributing to the design and implementation of project plans. IISc Bangalore, CSIR-CCMB Hyderabad, DBT-NIBMG Kolkata and CSIR-IGIB are undertaking whole genome sequencing and bio-banking of 10,000 healthy individuals from all over India,” said Dr Mayurika Lahiri, Associate Professor IISER Pune (Biology) and the principal investigator of GenomeIndia Pune Site.

“India represents a unique challenge in terms of genetics. While the DBT review for this mission mode project took 15 months, we have sequenced over 300 samples so far. Analysis is underway and this is a novel project, so we are looking forward to collection of more genetic samples,” Prof Ravindranath said.

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Whole genome sequencing and subsequent data analysis will help aid our understanding of the nature of diseases affecting the Indian population and open up new vistas for advancing next generation personalised medicine in the country, Prof Ravindranath added.

Anuradha Mascarenhas

Anuradha Mascarenhas is a Senior Editor at The Indian Express, based in Pune. With a career spanning three decades, she is one of the most respected voices in Indian journalism regarding healthcare, science and environment and research developments. She also takes a keen interest in covering women's issues . Professional Background Education: A gold medalist in Communication and Journalism from Savitribai Phule Pune University and a Master’s degree in Literature. Author: She authored the biography At The Wheel Of Research, which chronicles the life and work of Dr. Soumya Swaminathan, the former Chief Scientist at the WHO. Key Focus: She combines scientific accuracy with storytelling, translating complex medical research into compelling public and human-interest narratives. Awards and Recognition Anuradha has won several awards including the Press Council of India's national award for excellence in journalism under the gender based reporting category in 2019 and the Laadli Media award (gender sensitivity -2024). A recipient of the Lokmat journalism award (gender category-2022), she was also shortlisted for the RedInk awards for excellence in journalism-2021. Her debut book At The Wheel Of Research, an exclusive biography of Dr Soumya Swaminathan the inaugural chief scientist of World Health Organisation was also nominated in the Popular Choice Category of JK Paper AUTHER awards. She has also secured competitive fellowships including the Laadli Media Fellowship (2022), the Survivors Against TB – New Research in TB Media Fellowship (2023) and is part of the prestigious 2025 India Cohort of the WomenLift Health Leadership Journey.” Recent Notable Articles (Late 2025) 1. Cancer & Specialized Medical Care "Tata Memorial finds way to kill drug-resistant cancer cells" (Nov 26, 2025): Reporting on a breakthrough for triple-negative breast cancer, one of the most aggressive forms of the disease. Discipline, diet and purpose; How a 97-year-old professor defies ageing'' (Nov 15, 2025) Report about Prof Gururaj Mutalik, the first Head of Department at Pune's B J Government Medical College who at 97 credits his longevity to healthy habits and a strong sense of purpose. 2. Environmental Health (The "Breathless Pune" Series) Long-term exposure even to 'moderate' air leads to chronic heart, lung, kidney issues" (Nov 26, 2025): Part of an investigative series highlighting that even "safe" pollution levels are damaging to vital organs. "For every 10 µg/m3 increase in PM2.5 level, there was 6-8% jump in medicine sales" (Nov 23, 2025): Using commercial data to prove the direct link between air quality and respiratory illnesses in Pune. 3. Lifestyle & Wellness News "They didn't let cancer, diabetes and heart disease stop them from travelling" (Dec 22, 2025): A collaborative piece featuring survivors who share practical tips for traveling with chronic conditions. At 17, his BP shot up to 200/120 mmHG; Lancet study flags why child and teen hypertension doubled between 2000 and 2020'' (Nov 12,2025)--A report that focusses on 17-year-old-boy's hypertensive crisis and reflects the rising global trend of high blood pressure among children and adolescents. 4. Scientific Recognition & Infrastructure For promoting sci-comm, gender diversity: IUCAA woman prof highlighted in Nature" (Nov 25, 2025): Covering the global recognition of Indian women scientists in gender studies and physics. Pune researchers find a spiral galaxy like the Milky Way from early universe'' (December 3, 2025)- A report on how Indian researchers discovered a massive galaxy that existed when the universe was just 1.5 billion years old , one of the earliest to have been observed so far. Signature Beat: Health, Science & Women in Leadership Anuradha is known for her COVID-19 reportage, where she was one of the first journalists to provide detailed insights into the Covishield and Covaxin trials. She has a dedicated interest in gender diversity in health and science, often profiling women researchers who are breaking the "leaky pipeline" in STEM fields. Her writing style is scrupulous, often featuring interviews with top-tier scientists and health experts from various institutions. ... Read More

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