Approved Research

Characterising the role of LHX9 in infertility and disorders of sex development.

Lay summary

Infertility, which is defined as the inability to fall pregnant after 12 months of regular unprotected intercourse, affects 1 in 6 individuals over the course of their lifetime. The inability to fall pregnant can be distressing for couples and cause them to face stigmatisation in the wider community. While assisted reproductive technologies, such as in vitro fertilisation (IVF), are helping infertile couples to conceive, there is still a lack of understanding of the underlying biological cause of infertility in many individuals. An improved understanding of the genetic causes of infertility could improve someone's chances of naturally conceiving a child or aid in developing drugs or medical techniques to improve their fertility.

LHX9 is a gene known to be involved in the formation and function of the ovaries and testes and when this gene is absent in mice, they do not develop ovaries or testes. There is some evidence that mutations in this gene could be causing issues with the development and function of the reproductive organs in humans, including their fertility. However, there are not enough examples to confirm this theory. This project will use the genetic data from the UK Biobank and health information about people's fertility history to identify other examples of genetic mutations in LHX9 to show its role in human infertility. This research is part of a Ph.D. project, so it is expected to take 3 years. It hopes to provide.