Genomics of Endometriosis: where are we now, and where are we going? (Prof Krina Zondervan, Nuffield Dept of Women's & Reproductive Health)

Genetic studies have the potential to uncover new knowledge on the causes of disease, as well as help understand their complexity through identifying ‘sub-types’ that are underpinned by different pathways of pathogenesis. This information is crucial to inform the identification of novel targets for treatment, as well as methods of (non-invasive) diagnosis. I shall discuss recent progress in the field of endometriosis, covering our collaborative work within the International Endometriosis Genome Consortium, in which we are currently analysing 25 global datasets including >60,000 cases, detailed deep phenotype and comorbidity data, as well as functional ‘omics’ analyses. I will also discuss recent studies of somatic genetic mutations in endometriosis tissue which have received much ‘press’. Lastly, I will discuss how we can translate these genetic results into outcomes that are important to patients and clinicians.