Study on rare genetic diseases among diverse demographics in India – The Hindu

The Centre for DNA Fingerprinting and Diagnostics (CDFD) here has undertaken a study to look for rare genetic diseases with samples collected from different castes, linguistic groups and regions across the country to understand their prevalence and analyse the mutations for taking up counselling for the affected groups.

CDFD director K. Thangaraj told Manthan-Samvaad 2022, the annual event of Manthan public discourse forum, on Sunday about 20 different centres across the country India involved in the study making use of animal models, and that a special lab for rare diseases has also been opened at the institute for the purpose.

The eminent geneticist disclosed that there are a lot more population-specific recessive diseases among the Indian and South Asian people because of the endogamous (intra-community) marriages and that has to be studied. If the disease-causing mutation is dominant, it will come out but in recessive mutations, it will be carried across generations and could arise in the off springs subsequently even if they are not related but belong to the same community, he explained.

Every Indian population is unique, yet has some kind of genetic affinities. If the Andamanese were the first to migrate from Africa, second batch moved to Europe and some towards North India called as Ancestral North Indians (ANI). These groups admixed within themselves and with Ancestral South Indians (ASI) 2,000-3,000 years ago before endogamous relationships became the norm 2,000 years ago. It refutes the Aryan invasion theory, but brought forth a large recessive disease base, said Dr. Thangaraj.

With many other populations like Jews and Parsis having migrated later, India becomes a complex nation in terms of genetics, and analysing gives lot more information about the genetic affinities between them. The endogamous impact on health and diseases like cardiac diseases was found to be more prevalent in South Asia, he said.

Since there are many populations suffering with rare genetic diseases, the need of the hour is to follow the Jewish method of genetic study to look for mutations and followed by counselling among the couples, to stop the further spread of the disease, he added.

Former Indian Ambassador to Saudi Arabia Talmiz Ahmed in his talk Indias western neighbours friends or foes called for a new strategic doctrine with emphasis on forging better ties with West Asia because of oil, trade, working population and huge remittances and others, Iran, Russia and even China despite difficulties, rather than leaning too much on the United States, whose influence and power has been diminishing.

Ex-Army officer and Senior Fellow at the Centre for Policy Research Sushant Singh said while the financial burden of huge defence pensions has forced the government hand in bringing out the Agnipath scheme of recruitment into armed forces, it is flawed. It could disturb the armed forces functioning and also damage the civic society later especially when there is large scale unemployment and the economy is down. Manthan trustees former chief secretary K. Madhav Rao and M.R. Vikram also spoke.

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Study on rare genetic diseases among diverse demographics in India - The Hindu