# Defining early-onset glaucomagenetic etiologies

> **NIH NIH R01** · MASSACHUSETTS EYE AND EAR INFIRMARY · 2020 · $729,244

## Abstract

Project Summary
Glaucoma is a clinically and genetically complex disease that is the leading cause of irreversible blindness
worldwide. The disease exhibits both complex and Mendelian inheritance with complex disease more common
in adult populations and Mendelian forms more common in children and young adults. While recent genome-
wide association studies (GWAS) have identified >100 risk loci for adult-onset disease, only 10 genes are
known to cause early-onset glaucoma (EOG, glaucoma developing before age 40), and few studies have
targeted this severely affected population. The current set of EOG genes can explain only 20% of cases,
leaving most affected individuals without a molecular diagnosis. Treatment options for EOG cases are limited
and these patients are most likely to become blind during their lifetimes. The overall goal of this proposal is to
discover novel EOG causal genes that will provide opportunities for gene-based screening and diagnostic
tests, allowing for improved risk prediction and genetic counseling, as well as new, and potentially curative,
therapeutic targets. The current lack of EOG genes creates a pressing need to study genetic variation across
the full length of the genome in these severely affected glaucoma cases. Using whole genome sequencing
(WGS) we will create a comprehensive set of variants for genomic analyses for two large collections of
clinically well-characterized early-onset glaucoma probands and families through a collaboration between the
USA and Australia. We will accomplish the following specific aims: 1) Comprehensively identify all genetic
variants in at least 1000 EOG probands and selected family members using high quality WGS data and robust
variant calling and annotation pipelines; 2) Discover novel highly penetrant genetic variants in novel causative
genes in EOG patients and families; and 3) Examine oliogogenic inheritance and assess relationships of EOG
genes with adult-onset disease (primary open angle glaucoma).

## Key facts

- **NIH application ID:** 10034199
- **Project number:** 1R01EY031820-01
- **Recipient organization:** MASSACHUSETTS EYE AND EAR INFIRMARY
- **Principal Investigator:** Janey L Wiggs
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $729,244
- **Award type:** 1
- **Project period:** 2020-09-01 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10034199

## Citation

> US National Institutes of Health, RePORTER application 10034199, Defining early-onset glaucomagenetic etiologies (1R01EY031820-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10034199. Licensed CC0.

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