Genetic mechanisms of human ovary development and function: A life course approach (360G-Wellcome-216362_Z_19_Z)

This research focuses on conditions affecting human female reproductive function. These conditions include rare disorders of ovary development in babies, problems with entering puberty in adolescence, and impaired fertility and early menopause in adult women. We aim to enhance our understanding of these conditions by investigating important genetic events underlying their development. Our first aim is to study the dynamic genetic events that occur in the early developing ovary. We then plan to study genetic differences in ovarian follicles before and after puberty, to help us understand how reproductive function changes over a lifecourse and how we may need to adapt our fertility preservation approaches to suit girls and women of different ages. We also intend to perform detailed genetic testing on girls and women with two different reproductive health conditions: Turner syndrome (a condition where a woman has one, rather than two, X chromosomes) and primary ovarian insufficiency (a condition where a woman’s ovaries do not function well). We aim to detect new genetic mechanisms underlying these conditions. This research will allow a more individualised approach to the diagnosis of women with a variety of reproductive health conditions, and pave the way for new treatment approaches.