# Genetically testing mechanisms of ocular development and disease

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2021 · $391,637

## Abstract

PROJECT SUMMARY
Patients with ocular anterior segment dysgenesis (ASD) have a greatly elevated risk of developing severe,
early onset glaucoma that is refractory to treatment. Between 50-75% of patients with ASD develop glaucoma,
which occurs at significantly younger ages than in the general population, leading to disproportionately
diminished quality of life for patients and their families. We propose that intrinsic vascular defects are a primary
insult contributing to ASD that are distinct from defects in periocular mesenchyme differentiation. We will test
this hypothesis using highly advanced ultramicroscopy, innovative cell-labeling approaches, state-of-the-art
nanofluidics technologies and unique and complementary genetic resources. This etiological distinction
between migration and differentiation may have significant implications for patient stratification with respect to
prognosis, management of modifiable risk factors and awareness of potentially life-threatening co-morbidities –
all of which are important for genetic counseling, family planning and patients' psychological well being.

## Key facts

- **NIH application ID:** 10219255
- **Project number:** 5R01EY019887-09
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Douglas Gould
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $391,637
- **Award type:** 5
- **Project period:** 2010-09-30 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10219255

## Citation

> US National Institutes of Health, RePORTER application 10219255, Genetically testing mechanisms of ocular development and disease (5R01EY019887-09). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10219255. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*