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CURRENT RESEARCH STUDIES

PRIORITIZING DIVERSITY IN POLYGENIC RISK PREDICTION OF OPEN-ANGLE GLAUCOMA
2022- Present

National Institute of Health 

 


East Carolina University 
University of Ibadan
Duke University
University of Pennsylvania
Case Western Reserve University
Kaiser-Permanente Division of Research   

Overview: Glaucoma is the leading cause of irreversible blindness worldwide, with primary open-angle glaucoma (POAG) being the most common form. POAG disproportionately affects individuals of African ancestry, yet this group has been significantly underrepresented in genetic research. The current polygenic risk scores (PRS) for POAG, developed primarily using populations of European descent, are not as effective in diverse ancestry groups, limiting the reach of precision medicine.

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Aims

  1. Identify Novel Genetic Loci: Conduct the largest-ever meta-analyses of POAG in African and African-descent populations to uncover genetic loci specific to these groups.

  2. Discover Ancestry-Specific Loci: Use admixture mapping to identify POAG loci unique to or more prevalent in specific ancestries.

  3. Optimize Polygenic Risk Scores: Develop PRS for POAG that are tailored to and effective in diverse ancestry groups.

 

 Impact: Our comprehensive research approach is designed to enhance the predictive accuracy of POAG risk assessments and provide deeper insights into the genetics of POAG across diverse populations. This work will pave the way for more effective and inclusive precision ocular healthcare, benefiting a broader spectrum of individuals at risk for glaucoma.

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I-GOLD Jamaica 
2020- Present

 


East Carolina University 
Kingston Public Hospital 
Ministry of Health and Wellness
 

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  • The prevalence of glaucoma in Caribbean nations has been estimated at 7-8%, nearly double what is estimated in African countries. Afro-Caribbean individuals are more likely to develop glaucoma ten years earlier than other ethnic groups. Despite increasing prevalence, awareness and knowledge of glaucoma are low, especially in Jamaica. 

  • Increased knowledge of this population’s glaucoma burden can inform future public health interventions surrounding education initiatives, screening protocols, and more successful disease management. This particular study aims further to examine the prevalence and severity of glaucoma in Jamaica and identify at-risk subgroups and disease patterns. Due to the higher prevalence and severity of glaucoma in Jamaica, further research and information for culturally relevant interventions can greatly impact the community.  

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Million Veteran Program (MVP) Eye Disease Research
2019- Present 
Department of Veterans Affairs 


East Carolina University
Cleveland VA Hospital 
Case Western Reserve University 

Overview: The Million Veteran Program (MVP) is a national research initiative by the U.S. Department of Veterans Affairs (VA) aimed at understanding how genes, lifestyle, military experiences, and exposures impact the health and wellness of Veterans. The MVP Eye Disease group, led by Dr. Neal Peachey (Cleveland VA), Dr. Sudha Iyengar (CWRU), and Dr. Jessica Cooke Bailey (ECU) focuses on eye diseases affecting Veterans, particularly primary open-angle glaucoma (POAG).

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Key Findings:

  1. Phenotyping Algorithms: Developed clinician-informed algorithms to classify POAG cases and controls (PMID: 34822319).

  2. Genetic Risk Score (GRS) Evaluation:

    • Assessed a 127-SNP GRS in Veterans of European and African descent, finding better accuracy in European-descent cases, highlighting the need for diverse ancestry representation in genetic analyses (PMID: 35718050).

    • Extended GRS evaluation to Hispanic Veterans, showing similar performance in Hispanic and European-descent Veterans (PMID: 36540996).

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Ongoing Activities:

  • Leading the largest-ever genome-wide meta-analyses of POAG in individuals of African and Hispanic descent.

  • Future research aims to identify clinically relevant genetic variants associated with glaucoma subtypes (normal and high-pressure glaucoma), progression rates (fast or slow), and treatment responses (poor or adequate).

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Impact: These studies will improve the understanding of glaucoma genetics, leading to better diagnosis, personalized treatment, and improved health outcomes for Veterans with POAG.

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Assessing the Ophthalmology Landscape of North Carolina 

2023- Present 
 


 Center for Health Disparities 
ECU Health, Ophthalmology 

Overview: In collaboration with ECU Health's Dr. Ann Ostrovsky and Center for Health Disparities, Dr. Katherine Jones and Ayobami Alimi,  this project seeks to better understand the ophthalmology and optometry needs of the state of North Carolina, with a particular focus on Eastern North Carolina. This will serve as a jumping-off point to expand the All Eyes on Us and SIGHT studies (described in past research) to North Carolina. We hope that understanding better access to vision care will illuminate potential points of intervention. 

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Check back for findings! ​

PAST RESEARCH STUDIES

All Eyes on Us 
2018-2021

 


Case Western Reserve University
 University Settlement 
 

  • Overview: This study, in collaboration with Drs. Erika Trapl and Sarah Koopman-Gonzalez from the CWRU Prevention Research Center for Healthy Neighborhoods, aims to understand perceptions, values, and barriers to vision care in Cleveland, Ohio's racially and socio-demographically diverse communities. Early diagnosis and intervention are crucial to prevent severe glaucoma outcomes, such as vision loss and blindness.

  • Community Collaboration: We partnered with University Settlement, a community resource center with a 92-year history in the Broadway-Slavic Village neighborhood, one of Cleveland's most diverse and economically challenged areas. Together, we formed a Community Advisory Board (CAB) to discuss vision health and develop a qualitative interview tool.

  • Study Goals: The study aims to assess:
    - Perceptions of vision health
    - Values placed on vision care
    - Barriers to accessing vision health services

  • Participants: Sixty residents from the Slavic Village neighborhood participated, identified through various channels. The findings highlighted significant issues related to accessibility and awareness of eye health and care in this community.

  • Impact: Understanding these community-specific challenges will help develop targeted interventions to improve vision health awareness, accessibility, and early diagnosis, ultimately reducing the risk of severe glaucoma outcomes.

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Study Integrating Glaucoma Health (SIGHT)
2018-2021

 


Case Western Reserve University
University Hospitals  

  • Overview: Primary open-angle glaucoma (POAG) risk is more than twice as high in African Americans compared to other racial/ethnic groups in the U.S. African Americans are more likely to develop POAG at younger ages and suffer from blindness as a result. Despite this increased risk, research is lacking in addressing this critical health disparity.

  • Research Goals: Understanding the complex interplay of POAG risk factors is essential for early disease detection and identifying new therapeutic targets. Our study aims to establish the groundwork for a comprehensive longitudinal study to facilitate larger future studies. These studies will focus on identifying novel and/or rare genetic variants that affect disease progression and treatment response.

  • Study Details:

    • Objective: To lay the foundation for long-term research that integrates genomic and health records data.

    • Approach: By combining genetic and clinical data, we aim to identify clinically actionable modifiers that can improve the treatment and management of complex eye diseases.

    • Current Status: Data collected from Cleveland is under review and analysis. Preliminary implementation steps to replicate the study in Greenville, NC is underway.

  • Long-term Vision: The integration of genomic and health records data will enable the identification of factors that can be targeted to enhance clinical approaches and treatments for POAG and other related diseases. This innovative research aims to bridge the gap in health disparities and improve outcomes for African Americans at higher risk for POAG.

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GGLEAM 
2016- 2023

 


Case Western Reserve University
Ohio Eye Associates 

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The Genetics of Glaucoma Evaluation in the Amish (GGLEAM) study focused on populations in Ohio. The Amish are a relatively isolated European American founder group descended from 18th and 19th-century Swiss Anabaptist immigrants from Western Europe. Typical Amish observe a strict lifestyle and marry within their faith group. Diversity is thus reduced genetically and environmentally, providing a unique opportunity to study complex diseases in a more controlled manner. The Amish are enriched for rare genetic variation in other ocular diseases and provide a matchless resource to understand POAG risk; this unique population could reveal novel loci that are not detectable using standard GWAS approaches applied to ethnically European individuals with POAG in prior studies. ​

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Learn more about this work on the Bright Focus Foundation website.

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