Area of Research
Spanning the boundary between investigator and academic clinician, I seek to eradicate functional blindness from primary open-angle glaucoma (POAG) through early detection and an improved understanding of disease pathogenesis. While co-directing the Glaucoma Service at Massachusetts Eye and Ear and serving as Research Director of the Ocular Teleheath Center at the Boston VA Hospital, I engage in patient care, government-sponsored research and teaching to achieve my objective.
Glaucoma is a heterogeneous group of intraocular pressure (IOP)-related diseases producing optic nerve excavation and atrophy, ultimately culminating in blindness. POAG is the most common form of glaucoma in the Western World. Research developments over the past 30 years demonstrate that the level IOP retains a pathogenic link to POAG; yet, undisclosed factors also increase vulnerability to optic nerve deterioration. High quality medical evidence indicates that lowering IOP favorably impacts the natural history of POAG; nonetheless, the reason why IOP increases in POAG is unknown. I am principal investigator on NIH-funded research employing hypothesis-driven epidemiological methods to: a) gain insight into why IOP increases in POAG and b) discover novel factors making the optic nerve vulnerable to degeneration in POAG. For example, my study of the relation between type 2 diabetes mellitus and POAG suggests factors producing insulin resistance may contribute to elevated IOP. Furthermore genetic susceptibility to insulin resistance may contribute directly to glaucomatous optic neuropathy.
Since neither major environmental factors nor genetic loci have emerged as risk factors for POAG, I have taken a candidate approach to discover gene-environment interaction terms related to the disease. This work has generated the largest known population-based, case-control group consisting of incident POAG cases with archived DNA samples and repeated, validated environmental exposure information. I submitted a pending NIH application to use this sample in a high throughput genotyping effort with the long-term goal of identifying the full complement of genes, gene-gene and gene-environment interactions associated with POAG.
In addition to focusing on the etiology of POAG, disease detection is an important component of my research. I previously published that one risk factor for the disease (African Ancestry) is also a risk factor for reduced glaucoma awareness. As Research Director of the Ocular TeleHealth Center at the Boston VA, I assess telemedicine technologies that could facilitate the detection of glaucoma.
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