Three Nature papers just mapped 1,500 genes where DNA differences turn into disease

Why does the same genetic variant raise one person's risk of multiple sclerosis and leave another untouched? Three landmark studies published in Nature on 28 October from Australia's Garvan Institute of Medical Research — with the Murdoch Children's Research Institute, UNSW and partners — take the biggest step yet toward an answer. Working from the TenK10K project, which is mapping gene activity in the immune cells of 10,000 people, the team linked genetic risk regions for 16 diseases to likely causes in specific immune cells, identifying nearly 1,500 genes that may contribute to conditions from autoimmune diseases to Alzheimer's and breast and prostate cancers. 'We've gone from understanding very few to thousands of the potential causal mechanisms connecting genetic variation to disease risk, which is huge,' said Professor Joseph Powell. Knowing which variant, in which cell, through which mechanism, is exactly the map drug developers need to aim at the right target.

SDG 3 · Good health and well-being — Mechanism: tech innovation