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Research by Prof Andrew Wilkie and Prof Anne Goriely, published in PNAS, has identified the origins of some severe disease-causing mutations within the testicles of normal men. Particular mutations in the FGFR2 gene and a few other disease genes enable the mutated spermatogonia to produce not just sperm but extra copies of themselves, reproducing and spreading faster than the surrounding normal spermatogonia. This tumour-like growth means that over time, a greater proportion of sperm being produced carry disease-causing mutations, increasing the risk of fathering a child with a serious condition.
Professor Graham Ogg, from the MRC Weatherall Institute of Molecular Medicine has been awarded funding for an international 8-year research programme from global charitable foundation Wellcome.