Lauren Cruz
Graduate Trainee, Case Western Reserve University
1 active project
POAG and Ancestry
Scientific Questions Being Studied
Primary open-angle glaucoma (POAG) is a degenerative optical nerve disease characterized by progressive, irreversible vision loss. In fact, it is the leading cause of blindness worldwide. POAG is highly prevalent among those of African ancestry compared to those of European ancestry. Further, African ancestry individuals are much more likely than any other ancestry group to experience vision loss due to POAG. As such, our research aims to elucidate the underlying genetic causes of POAG, especially for those of African descent.
Project Purpose(s)
- Disease Focused Research (primary open angle glaucoma)
- Population Health
- Ancestry
Scientific Approaches
Our goal is to leverage the genetic and ancestral diversity of the All of Us Research Program to address the widely reported and perplexing ethnic disparity among those with POAG. We will focus on those of African ancestry. Specifically, we are looking at those regions of the genome that are unique to African ancestry to compare POAG cases and non-POAG controls. The approach we will use is similar to a case-control genome-wide association study (GWAS) and will require a relatively large study sample. We are hopeful that the AOU dataset will be able to provide the statistical power required to draw meaningful conclusions about the underlying genetic influences for POAG in this historically underrepresented population.
Anticipated Findings
Assuming there is a strong genetic influence for POAG in those of African ancestry, we expect that our findings will identify strong associations between POAG case status and putative risk loci. As this type of research has not yet been performed in this dataset, we hope that the loci identified will be novel and provide new avenues of exploration to address genetic risk for POAG. As blindness that has resulted from POAG is irreversible, the best course of action to prevent unnecessary vision loss is earlier detection. Identifying genetic risk factors for POAG, especially in a population that carries the highest disease burden, will allow clinicians to appropriately allocate time and resources into surveillance for those groups at the highest risk for developing POAG. This will save money and preserve vision.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Controlled TierResearch Team
Owner:
- Lauren Cruz - Graduate Trainee, Case Western Reserve University
Collaborators:
- Inas Aboobakar - Research Fellow, Mass General Brigham
- Skyler Hoang - Graduate Trainee, Case Western Reserve University
- Domenica Drouet - Graduate Trainee, Case Western Reserve University
- Dana Crawford - Mid-career Tenured Researcher, Case Western Reserve University
- Carly DaCosta - Project Personnel, Case Western Reserve University
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