Chen Lab
Principal Investigator: Rui Chen
Institution: University of California, Irvine (Irvine, CA)
Primary Subfield: Neuroscience
Recruitment Status: Inquire for rotation/fellowship opportunities
Research Focus
Abstract The goal of this project is to improve the molecular diagnosis rate and better understand the molecular mechanisms of early onset cone inherited retinal degeneration (eocIRD) diseases. As human heavily relies on cone vision for the activities, degeneration of cone photoreceptors has significant impact on their ability to perform daily routine. Unfortunately, the current molecular diagnosis rate of eocIRD, such as cone rod dystrophy (COD) and cone rod dystrophy (CRD), is significantly lower that of rod degeneration IRDs such as retinitis pigmentosa. More than 50% COD and CRD remain unassigned even upon screening of all IRD associated genes, highlighting a significant gap in our knowledge of the disease. To overcome this challenge, we propose to systematically identify novel genes and mutant alleles that are missed by current screen process through a combination of short and long read whole genome sequencing and functional validation experiments. To achieve this goal, we have established a large collection of over 1,500 well-characterized, unrelated COD, CRD, and LCA patient families. Screens for mutations in known inherited retinal disease genes led to the identification of…
Active NIH Awards
- 5R01EY018571-18: Genetics of early onset retinal diseases (2026)
- 5R01EY022356-13: Molecular Basis of Human Visual System Disorders (2026)
- 1R24EY039196-01: VisionKB: A Single Cell Multi-Omics Knowledgebase for the Visual System (2026)
- 5R01EY018571-17: Genetics of early onset retinal diseases (2025)
- 7R01EY022356-12: Molecular Basis of Human Visual System Disorders (2025)
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