I am exploring the genetic epidemiology of reproductive ageing, particularly with the aim of understanding the genetic landscape of conditions such as menopause and PCOS. I study both common and rare genetic variation, from SNPs to repeat expansions in well known monogenic causes of conditions like POI. I use methods from statistical genetics, including genome-wide association studies and Mendelian randomisation, to answer questions including:
Does a higher level of testosterone impact the risk of coronary artery disease in women?
Which expansion numbers in the FMR1 short tandem repeat are the most clinically significant? Does the STR in this gene interact with other known SNPs that contribute to premature ovarian insufficiency?
Are there better ways of identifying SNPs associated with PCOS? Would these methods illuminate different genetic aetiology of different subtypes of PCOS?
Which genetic variants and subsequent genes are involved in determining the regularity of menstrual cycle length? What consequences does possessing these variants have on broader health outcomes?
I hope to develop a clearer understanding of the aetiology of these diseases, and better understanding of the genetic determinants of these conditions facilitates this understanding, which is the best hope of finding treatments and providing advice to patients experiencing premature ovarian insufficiency and PCOS.
