# Transcriptional Profiles of Visual System Impairment

> **NIH NIH R21** · UNIVERSITY OF TEXAS AT AUSTIN · 2021 · $248,048

## Abstract

PROJECT SUMMARY ABSTRACT
There is a fundamental gap in understanding the etiology of retinal disorders, such as retinitis pigmentosa and
age-related macular degeneration. This gap in our understanding is compounded by complex differences in the
underlying genetics, variation in individual disease severity, and the effects of the environment. The continued
existence of this gap represents an important problem in retinal disorders because, until it is filled, the under-
standing and treatment of these eye pathologies will remain fragmented and incomplete. The long-term goal is
to understand how different genes and the variation in their expression contribute to visual system impairment.
The objective of this particular application is to characterize the transcriptional profile of a panel of highly inbred
fruit fly strains (the Drosophila Genetic Reference Panel, DGRP) and study the relationship between gene ex-
pression, genomic polymorphisms and the substantial variation in visual system function and age-related visual
impairment within the DGRP. The central hypothesis is that a complex genetic network composed of gene co-
expression modules is responsible for visual impairment in these strains. This hypothesis has been formed based
on published work and preliminary data produced in the applicant's laboratory. The rationale for the proposed
research is the observation that multiple genetic polymorphisms have been identified in Genome Wide Associa-
tion Studies of visual system impairment in the DGRP. However, recent studies have failed to identify a tran-
scriptional link between these genetic polymorphisms and the impairment of vision. Using a Systems Genetics
approach, our hypothesis will be tested by pursuing two specific aims: We will 1) Identify Genetic Co-Expression
Networks that regulate visual system function and impairment, and 2) Develop and test gene network models
based on these candidate co-expression modules and candidate genes. The approach is innovative because
we will examine the interactions of genotype, transcriptome and visual system function using a highly statistically
powered Systems Genetics approach incorporating a tissue focused Tag-Seq transcriptome analysis. This ap-
proach is likely to provide a type of information that promises to fundamentally alter our understanding of the
molecular genetics of visual system function and disease. The proposed research is significant because it will
vertically advance our understanding of the genome-transcriptome relationship and how it impacts the eye. Be-
cause many of the genes under study are associated with human retinal dystrophies, the fundamental knowledge
from the project has the potential to advance the understanding and treatment of visual system disease.

## Key facts

- **NIH application ID:** 10196109
- **Project number:** 1R21EY032663-01
- **Recipient organization:** UNIVERSITY OF TEXAS AT AUSTIN
- **Principal Investigator:** STEVEN G BRITT
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $248,048
- **Award type:** 1
- **Project period:** 2021-06-01 → 2023-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10196109

## Citation

> US National Institutes of Health, RePORTER application 10196109, Transcriptional Profiles of Visual System Impairment (1R21EY032663-01). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10196109. Licensed CC0.

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