# Novel Biomarkers and Genetics of Diabetic Retinopathy

> **NIH NIH R01** · UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR · 2020 · $666,571

## Abstract

Project Summary
Diabetic retinopathy (DR) is one of the five most important causes of visual loss in the US
population with 12,000-24,000 cases of DR-related blindness every year. Clinical phenotypes in
DR include no/mild DR to sight threatening diabetic macular edema (DME) and proliferative
diabetic retinopathy (PDR). The severity of DR varies widely among patients and the biological
underpinning for the phenotypic variability in DR is not completely understood. Some diabetics
do not develop DR at all, or very mild DR in spite of long durations of diabetes. Not all diabetics
develop DME or PDR. Our preliminary work presents novel evidence that the majority of PDR
patients do not have concurrent DME, and similarly the majority of DME patients do not have
concurrent PDR. Also, there is differential response to anti-VEGF drugs in DME and PDR. The
variability in phenotype and anti-VEGF responsiveness in DME supports a genetic component
in DR susceptibility. The goal of our research is to determine what factors are responsible for
this phenotypic variability in DR, and discover a “molecular profile” that quantitatively
correlates with, and can thus be used to predict disease severity. In this research proposal, we
utilize both hypothesis-driven and unbiased genomic approaches using next generation
sequence technology (NGS) to investigate the molecular basis of phenotypic variability in DR.
We hypothesize that either rare genomic factor(s) or the combination of
environmental and rare genomic factor(s) that predispose to different DR
phenotypes, or protect against the progression of DR. The specific aims include: 1)
establish and segregate pure phenotypes of DR, DME and PDR in three ethnic populations; 2)
identify and characterize the genetic factors and molecular pathways that influence the
progression of DR and segregation of different subsets of DR by using whole exome sequencing;
3) determine differences in protein biomarkers that differentiate DR phenotypes using protein
analysis. Use of next-generation sequencing (NGS) in this proposal will overcome many of the
barriers associated with identifying genetic modifiers. We have assembled a unique team of
experts in DR phenotyping and genomic studies to investigate genetic variants in DR. Our
research will address a critical scientific gap in understanding phenotypic variability in DR and
will define a “molecular profile” that correlates with and predicts disease severity. Our findings
may provide a tool for early prediction of disease severity, development of novel biomarkers,
and improved therapeutic targets that may prevent the progression to severe vision threatening
phenotypes in DR patients.

## Key facts

- **NIH application ID:** 9982948
- **Project number:** 5R01EY028606-03
- **Recipient organization:** UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR
- **Principal Investigator:** ARUP DAS
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $666,571
- **Award type:** 5
- **Project period:** 2018-09-30 → 2023-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9982948

## Citation

> US National Institutes of Health, RePORTER application 9982948, Novel Biomarkers and Genetics of Diabetic Retinopathy (5R01EY028606-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9982948. Licensed CC0.

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