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.
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.
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.
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