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India delves into the study of genetics

Indian institutions are delving deeper into the study of genetics, a move that could have significant impact on health in India.

As of now, Indian genomes only represent 0.2 percent in the global genetic databanks. The current majority of genomes — around 96 percent — are of European ancestry. With known genes almost exclusive to the Indian population that present a unique risk in developing diabetes, ignoring the study of Indian genes leaves what could be a medical goldmine all but untapped.

Genes play a considerable role in a person’s health. Their involvement can range from single gene mutations that can cause a number of conditions falling under the bracket of “rare diseases” — many of which are life-threatening, to the creation of a genetic susceptibility to obesity, heart disease, cancer, or even a person’s vulnerability to numerous infectious diseases.

genetics Copyright: nexusplexus / 123RF Stock Photo

The study of genomics: A field India could soon be leading?

Earlier this year, a state-of-the-art genomics facility was built in Allahabad. This facility has the capacity to analyse the genomes of people, crops and animals, all with the capacity to improve numerous fields that have an impact on human health — whether this be directly, through the development of personalised medication, or indirectly, altering crop output and nutrient density. The interest in expanding Indian genetics studies, however, did not end there.

The Department of Biotechnology (DBT), for example, plans to scan nearly 20,000 Indian genomes over the next five years, in a two-phase exercise, with the intention of creating diagnostics tests that could help in cancer screening. The first phase of the study will involve scanning 10,000 individuals from across India, capturing the “biological diversity of India” according to the DBT.

The second phase of the study will involve the scanning of around 10,000 “diseased individuals”. This would allow for any recurrent genes found in individuals with the same condition to be discovered. 

The concept is known as a genome-wide association study (GWAS). The study involves large numbers of individuals having their genomes mapped. Those known to have specific diseases can then be flagged and genes found to be unique or mutated can be marked for further study. For example, if ninety percent of individuals with breast cancer, were found to have a gene rarely found in individuals without breast cancer, this gene would be of interest to researchers.

Such a study benefits from larger group sizes, so as India continues to perform these studies, greater amounts of information can be uncovered. Successes have already been made in this regard in uncovering several genes common among the Indian population that genetically predisposes individuals to developing diabetes. Prior knowledge of a person’s genetic makeup can allow for interventions to take place before a condition occurs. In the case of diabetes, knowledge of a genetic predisposition could prompt lifestyle changes to reduce the risk of developing the condition.


India is already leading global knowledge in some areas of genetics

GWAS are a tremendously useful tool and could provide a great boon to Indian healthcare, but this is not the only area of genetics in which India is advancing. A team of scientists from Savitribai Phule Pune University (SPPU) alongside a number of other institutes have, for the first time been able to prepare a map of human ‘Scaffold/Matrix Attachment Regions (S/MARs)’ present on the human DNA.

The S/MARs are responsible for the creation of regions of DNA in which nuclear matter is able to bind. This in turn gives DNA its three dimensional structure. While the topic may seem niche or inconsequential, this could not be further from the truth. It was found that the HIV virus bound to these S/MARs sites upwards of ninety percent of the time. 

“This work is [the] first of its kind in the world…After we made a map of S/MARs, we compared the two and realized that the virus integration sites for HIV and HTLV are over ninety percent in S/MARs. This research may help in bettering antiviral therapeutic strategies to treat diseases like AIDS and cancers,” said Abhijeet Kulkarni, lead author from Bioinformatics Centre at Savitribai Phule Pune University.

Such a discovery could have a major impact if research is continued and more is learnt about the way in which viruses utilise the S/MARs sites to effectively hijack human DNA. The research also demonstrates India’s capacity to lead the way in science. With ever more investment and research in the field of genetics, Indian research could not only be of benefit domestically, but across the world.

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