Study Reveals South Asians Are Prone To Rare Genetic Diseases

According to a genomic analysis people living in India and other South Asian countries are vulnerable to rare genetic diseases.

The study, led by Harvard Medical School (HMS) in the US and the CSIR - Centre for Cellular and Molecular Biology (CCMB) in Hyderabad, revealed that conducting marriage within the same ethnic group is the major cause for the risks of genetic diseases among the South Asian population.

Over 1.5 billion population in South Aria are vulnerable to such rare generic population according to the study. Approximately 2,800 individuals from over 275 distinct South Asian populations belonging to various social and linguistic groups from India, Pakistan, Nepal, Sri Lanka, and Bangladesh using about 6,00,000 genome-wide markers were taken up for the study.

"Our work highlights an opportunity to identify mutations that are responsible for population-specific disease and to test for and decrease the burden of recessive genetic diseases in South Asia," said David Reich, professor of genetics at HMS and co-senior author of the study.

"Everybody carries a small number of mutations that could cause severe disease, but each person usually only has one copy - and two copies are needed to get sick," said the study's first author, Nathan Nakatsuka, a graduate student in the Reich lab.

"If parents have the same common ancestry, there is a greater risk that they will both carry the same recessive mutation, so their offspring are at much greater risk of inheriting the two copies needed to manifest disease," said Nakatsuka.

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