Hyderabad: CCMB’s finding on the South Asian population will throw light on diseases unknown to the world so far that were restricted to tribal populations and a few endogamous families.
CCMB Senior Principal Scientists Dr K. Thangaraj said, “To demonstrate how a new recessive disease in a founder event group could be mapped, we have analysed six patients from South India who had Progressive pseudorheumatoid dysplasia (PPD) is a disease known to be caused by mutations in the WISP3 gene. Of the six individuals with a mutation, five were from non-consanguineous marriages. They have much higher fraction of IBD at the disease mutation site than in the rest of the genome in these individuals consistent with the mutation that cause of PPD.”
In another case A homozygous mutation p.R627W in POLG1 leads to severe mitochondrial disorder and premature death at the age of 13 to 15 years.
Dr Thangaraj said, “Mapping of mutations that are responsible for population specific disease would help in developing strategies for diagnosis, counselling, management and modifying the clinical course of these disorders and to reduce the diseases burden among South Asians. Any further specific research of the groups will lead to actionable medical research.” Dr Rakesh K Mishra CCMB director said the finding will help in accelerating efforts for predictive and personalised genomic medicines.