Functional Genomics in Endometriosis

This Novo Nordisk funded PhD project is focused on establishment of a human genomics framework to drive findings from genome-wide association studies (GWAS) into mechanistic insights within women's reproductive disorders with the special focus on endometriosis. Main questions are:
What genes are driving the disease progression?
Which tissues are enriched for the risk genes?
What are the main gene expression networks?
To address these questions, we will take advantage of different computational methods, spatial transcriptomics and RNAscope.

Endometriosis is a common disease that appears in 10% of women in the population. It is caused by the presence of endometrial uterus tissue, outside the uterus and is associated with severe pain and inflammation. We do not know the disease well and there is no effective treatment for the patients. My aim in this project is to understand how our genes contribute to the formation of the disease. To figure out what is happening in the endometrium and endometriosis lesions at the transcript level, we decided on setting up a spatial transcriptomics solution to study the transcriptional activity of single cells spatially oriented across the endometrial tissue. This method provides valuable mechanistic insights into the role of risk genes in women's health.