Genetically testing mechanisms of ocular development and disease

NIH RePORTER · NIH · R01 · $403,750 · view on reporter.nih.gov ↗

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
9967004
Project number
5R01EY019887-08
Recipient
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
Principal Investigator
Douglas Gould
Activity code
R01
Funding institute
NIH
Fiscal year
2020
Award amount
$403,750
Award type
5
Project period
2010-09-30 → 2023-06-30