In a major breakthrough, Hyderabad scientists have found the genetic secrets that are responsible for rare diseases that afflict people in India as well as other parts of South Asia. The scientists from the Centre for Cellular and Molecular Biology (CCMB) were part of an international team of researchers who have collectively achieved this major breakthrough. The research study was published in the leading scientific journal, Nature Genetics. The study reveals the genetic mutations that make nearly 1.5 billion South Asians susceptible to rare genetic diseases. These mutations affect specific sections of the population in South Asia.
The study is significant, as it will help scientists to find new ways to manage or prevent such rare diseases. At Hyderabad’s CCMB, the research was led by senior scientist Dr Kumarasamy Thangaraj. It was discovered by the team that nearly one-third of the South Asian population are faced with strong founder events/population bottlenecks, something that leads to a high rate of population-centric disease in the region. “We have analyzed samples from more than 2,800 individuals from over 275 distinct South Asian populations who belongs to various social and linguistic groups from India, Pakistan, Nepal, Sri Lanka, and Bangladesh using about 600,000 genome-wide markers”, said Dr Thangaraj.