Exploiting Molecular Genetic Diagnoses of Polycystic Ovary Syndrome to Achieve Better Patient Outcome

This study focused on improving genetic diagnosis of polycystic ovary syndrome (PCOS) by using exome sequencing to identify causal mutations in related individuals with clinically defined PCOS. The research highlighted the potential of Genome Wide Association Studies (GWAS) and exome sequencing in uncovering PCOS-related genetic variants, which could lead to better patient outcomes and targeted therapies. A specific investigation into the growth differentiation factor-9 (GDF9) gene, linked to PCOS, was conducted, but functional characterisation of a GDF9 mutation was unsuccessful due to issues with overexpression of the mutant construct. Despite this, the study successfully identified putative mutations shared among first-degree relatives, contributing to the understanding of PCOS aetiology.