Genetics of Glaucoma Evaluation in the Amish
We know that genetics and environment play a role in glaucoma risk, but most of the people who have been studied are different on many levels. We want to study glaucoma in the Amish, a group that is essentially a very large family. We think that by understanding glaucoma risk in the Amish, we can learn more about the genes and pathways that influence this disease. This knowledge will serve to better inform preventative and treatment strategies relevant to the millions of people throughout the world who will likely acquire glaucoma unless new ways of understanding disease risk and prevention are developed.
With the Genetics of Glaucoma Evaluation in the Amish pilot study (GGLEAM), we will study an Amish population concentrated in Holmes County, Ohio, wherein primary open-angle glaucoma is present, with the goal of identifying a novel genetic contributor to this disease. We know that genetics and environment play a role in glaucoma risk, but most people who have been studied thus far are different on many levels including (i) the specific subtype of glaucoma they have, (ii) their genetic backgrounds are diverse and therefore complicated, and (iii) their environmental exposures vary widely. We will study glaucoma in the Amish, essentially a very large family, because (i) they are more likely to have the same type of glaucoma, (ii) their genetic backgrounds are more similar, and therefore there is less confusing “noise” to sift through when performing genetic analyses, and (iii) they have fairly uniform lifestyles and, therefore, their environmental exposures are more similar to one another (compared to other groups wherein glaucoma has been studied). We will examine their eyes, get detailed medical histories, evaluate their environmental exposures and lifestyle choices, and get blood so we can study their genetics from a genome-wide perspective, applying techniques that are specifically useful for large family studies. By understanding glaucoma risk in the Amish, we can learn more about the genes and pathways that influence this disease and apply this knowledge to better-inform preventative and treatment strategies.
About the Researcher
I have always been intrigued by science and helping others. My undergraduate degree in biology provided foundational knowledge to appreciate and critically evaluate complexities in life and disease. My undergraduate research experience helped me appreciate academic research, and my passion for inquiry has only grown since that time.
I received my Bachelor of Science in Biology (Honors degree) from Winthrop University in 2008. It was during my time at Winthrop that I realized my passion for research while supported by an NIH: INBRE summer undergraduate research fellowship, which yielded two additional years of studying the molecular evolution of hantavirus and foot-and-mouth disease virus. Determined to learn more specifically about human genetics at the individual and population levels, I entered the Molecular Medicine and Translational Science PhD program at Wake Forest University School of Medicine, where I learned to appreciate the human impact of biomedical research. In my dissertation project, I evaluated the transferability of genetic mediators of type 2 diabetes and nephropathy within and across populations of primarily African and/or European ancestry. During this time, I developed a keen interest in genetic epidemiology research, specifically in diverse populations. Upon completion of my PhD, I sought a postdoctoral research fellowship in genomic “big data,” which I began at Vanderbilt University in October of 2012, supported by a Quantitative Ocular Genomics training grant (T32) position. In October of 2013, I relocated to Case Western Reserve University (CWRU), supported by the Vision Sciences (T32) training program for one year. Upon completion of that fellowship, I was awarded a two year PhRMA Foundation Postdoctoral Fellowship in Informatics. My research focus during my postdoctoral fellowships were on elucidating genetic modifiers of complex diseases, mainly age-related macular degeneration (AMD) and primary open angle glaucoma (POAG). I was appointed as a KL2 Scholar (KL2 Training Program, Clinical Translational Science Collaborative of Cleveland) in July 2016, and was promoted to the rank of assistant professor in the Department of Population and Quantitative Health Sciences in January 2018. My current work is focused on assimilating data across multiple entities to disentangle the multifactorial diseases that comprise ‘glaucoma,’ with the eventual goal of translating the knowledge gained into clinically relevant information. Moving beyond what we have learned from extensive genome-wide association studies and mega meta-analyses primarily in populations of European descent, I hope to integrate trans-ethnic genomic and health data to dissect the genomic and environmental aspects of this disease. My overall research goal is to better understand the complexity of glaucoma risk by assessing genetic, clinical, and environmental differences across ethnic groups to illuminate undetected genetic and non-genetic mediators. By better understanding glaucoma risk factors, we can begin to address crucial health disparities with the goal of informing better disease treatments applicable to diverse populations.
Blindness is understandably a major health fear and anything we can do to better understand glaucoma, the leading worldwide cause of blindness, will be worthwhile. I am motivated by the hope that if we can unravel genetic as well as non-genetic contributors to glaucoma through working with the Amish, we can apply this knowledge to unravel disease mechanisms and pathways, and then eventually this knowledge can be used to inform prevention and treatment strategies. I am incredibly grateful to the BrightFocus donors for their support and I am honored to be entrusted with this award.
First published on: July 26, 2018
Last modified on: January 21, 2020