Early Career Tenure-track Researcher, University of Pennsylvania
1 active project
The Genetics of Endometriosis in Diverse Ancestries
Scientific Questions Being Studied
More than 200,000 women are diagnosed with endometriosis every year and over half of those women do not receive a definitive diagnosis until 8.5 years after the onset of symptoms and many times when they present with additional comorbidities. While several studies have suggested that genomic markers, environmental risk factors and inflammatory markers play crucial roles in endometriosis symptomatology, there are no effective tools available to predict an individual’s risk of developing endometriosis or to predict its downstream effects. The long-term goal is to develop effective and non-invasive early screening tools to identify patients at risk of developing endometriosis and predict long-term effects. The main objective of this project is the development of models to predict the risk of endometriosis across varied clinical manifestations and associated long-term health outcomes, integrating genetic and non-genetic risk factors extracted from Electronic Health Records.
- Disease Focused Research (endometriosis)
We plan to use phenotype and genotype data for this project. We will approach the analyses in multiple ways:
- Genetic architecture elucidation vai common varaint and rare variant association analyses
- Testing of polygenic risk scores
- Genotypic and biometric clustering approaches
- Mediation and mendelian randomization analyses
The expected outcomes will be rigorously evaluated non-invasive computational methods for screening and diagnosing endometriosis across various clinical manifestations and its long-term effects based on genetic and non-genetic factors. In addition, our screening and diagnostic methods will be applicable to women of diverse ancestries.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set UsedControlled Tier
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