2019 participants
Joshua Bonacorsi
Infertility is an issue that affects many couples around the world and can often be the result of genetic mutation. However, the parents of an infertile child must have been fertile, raising the question of where the infertility mutation came from. In some cases, it is possible that the mutation occurred during the production of sperm and egg cells. This means that the child carries the mutation but neither of the parents do, called a de novo mutation. This project aimed to identify the mutations responsible for the observed infertility in a cohort of infertile men. Through analysis of the data collected from these patients, mutations were identified and verified in 5 genes that were highly likely to be responsible for their infertility, as well as a number of other mutations that require further investigation.
Funding Source: Newcastle University
Project supervisor: Professor Joris Veltman