Genetic and Epigenetic Landscape for Drug Development in Polycystic Ovary Syndrome.

This article focuses on the challenges and advances in developing targeted treatments for polycystic ovary syndrome (PCOS), a complex endocrine disorder affecting women of reproductive age. Currently, all approved therapies are symptomatic, with no drugs specifically authorized by the US Food and Drug Administration for PCOS. Recent progress in genetics and epigenetics, including genome-wide association studies (GWAS), epigenome-wide association studies (EWAS), Mendelian randomization (MR), and phenome-wide association studies (PheWAS), has enhanced understanding of PCOS pathogenesis and identified potential drug targets. Emerging genetic and epigenetic therapies—such as adeno-associated virus (AAV) vectors, messenger RNA (mRNA) treatments, RNA interference (RNAi), CRISPR/Cas9 gene editing, and epigenetic modulators—show preliminary preclinical promise but require further research to address safety and efficacy. The integration of genetic and epigenetic insights offers a pathway toward precision medicine approaches tailored to distinct PCOS subtypes, potentially improving therapeutic outcomes.