# NEIGHBORHOOD Consortium for POAG Genetics

> **NIH NIH R01** · MASSACHUSETTS EYE AND EAR INFIRMARY · 2024 · $565,003

## Abstract

Primary open-angle glaucoma (POAG) is an intraocular pressure (IOP) related, progressive optic neuropathy
that ultimately leads to blindness. Permanent visual field loss from POAG is a condition of public health
significance worldwide. The etiology of POAG is poorly understood and primary prevention is not possible.
Elevated intraocular pressure (IOP) is a modifiable risk factor, however, many individuals have IOP elevation
without optic nerve disease , and at least 33% of POAG cases have progressive retinal ganglion cell loss
despite IOP measurements in the normal range, a condition defined as normal-tension glaucoma (NTG).
Preventative or neuro-protective therapies for glaucoma are not yet available and little is known about the
molecular events that influence susceptibility to glaucomatous optic nerve degeneration. The overall goal of
our research is to elucidate the pathogenesis of POAG allowing for implementation of effective screening and
prevention strategies and development of novel therapies. POAG has significant heritability and recent
genome-wide association studies, including our NEIGHBORHOOD GWAS, have identified 30 POAG loci
defined by common genomic variants. However, in addition to common variants the complex POAG genetic
architecture is likely to also include contributions from rare coding variants that implicate specific genes in
disease pathogenicity, as has been discovered for other complex traits. Large-scale studies of rare coding
variation in glaucoma populations have not yet been done. The focus of this competing renewal is to
comprehensively examine the contributions of coding variation to POAG and the HTG and NTG subgroups
with a primary goal of identifying novel therapeutic targets and specifically those with neuro-protective
potential. For the next funding period we propose the following specific aims: 1) Obtain high quality whole
exome sequence (WES) data for POAG cases and controls using state-of-the-art sequencing and robust
variant calling and annotation pipelines; 2) Assess contribution of rare coding variants to POAG and to NTG
and HTG subgroups; and 3) Build a web-based platform for data analysis, data-sharing and communication.

## Key facts

- **NIH application ID:** 10770389
- **Project number:** 5R01EY022305-12
- **Recipient organization:** MASSACHUSETTS EYE AND EAR INFIRMARY
- **Principal Investigator:** Janey L Wiggs
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $565,003
- **Award type:** 5
- **Project period:** 2012-08-01 → 2026-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10770389

## Citation

> US National Institutes of Health, RePORTER application 10770389, NEIGHBORHOOD Consortium for POAG Genetics (5R01EY022305-12). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10770389. Licensed CC0.

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