Latest news with #KumaraswamyThangaraj


India Today
24-04-2025
- Health
- India Today
Why White Blood Cells were used to study genetic past and future of Indians
The Genome India Project - one of India's most ambitious scientific undertaking recently unveiled findings from genetic makeup of over 10,000 project highlights personalised information about the DNA of Indians, what makes them unique from other populations and how information about our genetic makeup can transform the field of preventive in Nature Genetics, the study has analysed whole genomes – a process of complete analysis of genomes of an organism - of a huge population of the But what sets it apart is its unique study approach apart from 135 million genetic variations. Variants found in Indian genomes are not found anywhere around the world. (Photo: AFP) While other countries have used saliva, umbilical cord, or skin cells to extract DNA, Indian scientists have used White Blood Cells (WBCs) for the same are cells produced in the bone marrow and circulated in the bloodstream. Also known as leukocytes, they help protect the body from infections and IS GENETIC INDIA PROJECT?Genome India Project is a scientific study performed by collecting genomes of 10,000 healthy individuals across a collaborative project of 20 institutions, which began in 2020 with the funding of the Department of Biotechnology, to create a comprehensive reference for Indian genomic diversity, establish a robust biobank for future research, enable open access to genomic data, develop affordable genetic tools for diagnostics, pave the way for precision medicine in India, and inspire the next generation of genomic 160 samples from non-tribal groups and 75 samples from tribal groups were collected from 83 population groups. The samples were collected from unrelated individuals to ensure accurate analysis of mutation. Genome India Project is a scientific study performed by collecting genomes of 10,000 healthy individuals. (Photo: Getty) While explaining how mutations can help in analysing diseases over time, Dr. Kumaraswamy Thangaraj, Principal Investigator of Genome India Project told 'Certain mutations are disease-causing; some are distributed over the world, and some are Indian specific. We are looking at those kinds of mutations that will emerge only when we complete our analysis.'WHY HAVE THEY BEEN CHOSEN?The research conducted is unique because of the method of extracting genomes from the WBCs. They are chosen because of their stability, which helps in the accurate extraction of asked about the role WBCs play in genome extraction, 'Any cell is sufficient,' said Dr K Thangaraj. He further added, 'Our idea is to do some biochemical analysis, like creating cell lines, storing blood as such, or isolating cell lines if you store serum separately. All this cannot be done with saliva, as we may not get enough strength for further use.''WBCs are the least contaminated ones, and they consequently offer one of the best sequencing options to derive good quality data at different levels,' said Dr Ravi Gupta, Vice President, Bioinformatics at IMPLICATIONS OF THE STUDYThe Department of Biotechnology has said that the variants found in Indian genomes are not found anywhere around the report also mentions the custom of marrying within the local communities, clan, or tribe, known as endogamy, as the reason for increased mutation rates within the population.'Certain mutations are associated with disease,' said Dr Thangaraj. 'If we put all these mutations into an array, the diagnosis of any disease can be developed more cheaply.' It's a collaborative project of 20 institutions. (Photo: Getty) advertisementTreatment for the diseases will depend on the response from the individual. This will be checked after analysing the reaction of individuals to the treatment.'Certain individuals may respond positively to the treatment. For them, the new treatment may work. But in some, it may produce adverse effects, leading to the development of new drug–personalized medicines,' said Dr choice of using WBCs has led to an understanding of gene-disease relationships in the genetically diverse population of the country. However, scientists say a clear understanding of these genetic variations is important for developing targeted treatments and preventive strategies for the Indian population.'The Indian population is endogamous. We find population-specific mutations. Some are very rare, some are disease-causing,' said Dr Thangaraj. 'We are analysing 10,000 genomes in detail, and we will find the actual impact on this and write a bigger paper after 2-3 months.'Must Watch


India Today
23-04-2025
- Health
- India Today
Marriage within the community: How endogamy affects genetic health of Indians
In several regions across India, marriages within the same community or amongst relatives have contributed to a rise in certain inherited health widespread cultural practice of marrying within the same communities, castes, and religions is called to the National Family Health Survey 2005-06, most marriages occurred within the same religions, castes, communities, and ethnic groups, with only 10% being inter-caste and just 2.1% being A recent report under India's genome project reveals that this practice is "highly prevalent" in all 83 population groups as part of the study, with some variations leading to population-specific ENDOGAMY LEADS TO GENETIC DISEASES?Marrying within the caste is common all over India, irrespective of the Southern part of India, people usually practice the culture of marrying close relatives, a practice called "consanguineous marriages."This can lead to the hereditary transfer of diseases, impaired heart health even at a young age, arthritis, and abortions. Marrying within the caste is common all over India, irrespective of religion. This is leading to a rise in genetic diseases. () advertisementSuch kinds of marriages can also lead to the transfer of diseases through generations."If both parents have certain diseases, it will be transferred to the kids too. Their children might inherit two copies of these genes, even though their parents show no symptoms of them,' said Dr. Palaniappan Manickam, Consultant Gastroenterologist, in a YouTube endogamy has been in practice for ages, this has led to mutations within the population, paving the way for certain genetic diseases."The Indian population is endogamous. We find population-specific mutations," Dr. Kumaraswamy Thangaraj, Principal Investigator of India's Genome Project, told India Today a study published by Thangaraj in Nature Genetics, the expert pointed out the influence of endogamy in causing cardiac problems in relatively young populations. This problem could get worse in South India in comparison to North India, as many people may suffer from cardiac problems in their old age. Since endogamy has been in practice for ages, this has led to mutations within the population, paving the way for certain genetic diseases. () It also revealed that endogamy and not climate change or other factors have led to the deletion of certain base pairs of DNA, which are crucial for the regular heartbeat pattern.A type of arthritis known as ankylosing spondylitis, which causes inflammation in the joints and ligaments of the spine, is also associated with study published in the journal Nature reveals that consanguineous marriage increases the risk of spontaneous abortion, stillbirths, neonatal mortality, and child CAN BE DONE?Educating people about the ill effects of endogamy is the need of the hour. Encouraging them to marry outside their communities will help in reducing the burden of genetic by doctors and screening programmes will help in the early detection of the way to put a stop to the spread of endogamy is by understanding the genetic makeup of Genome India Project, a government-led research project that has mapped over 10,000 individuals, reveals major information on mutations that endogamy has led to. Counselling by doctors and screening programmes will help in the early detection of the diseases. () advertisementDr. Thangaraj stated that since certain mutations are associated with these genetic diseases, "If we put all these mutations into an array, the diagnosis of any disease can be developed more cheaply."Response from the individuals is important for analysing the treatment techniques.'Certain individuals may respond positively to the treatment. For them, the new treatment may work. But in some, it may produce adverse effects, leading to thedevelopment of new drug–personalised medicines,' said Dr. inter-community marriages, genetic screening, and public awareness, along with government intervention in supporting the development of new drugs, are essential steps towards reducing diseases caused by InMust Watch