Cell and genetic causes of keratoconus
Cellular and Genetic Defects in Keratoconus
Researchers are analyzing cell changes and genes in people with keratoconus to find early warning signs and new treatment targets.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | New York University School of Medicine NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11262821 on NIH RePORTER |
What this research studies
This project studies corneas and DNA from people with keratoconus and their families to find the cellular problems and genetic changes that lead to corneal thinning and scarring. The team uses whole-exome sequencing of families plus transcriptomic and proteomic analysis of donated corneal tissue to find rare gene variants and disrupted pathways. They are especially focused on cell-stress, cytoskeleton, and extracellular matrix genes and on a weakened antioxidant (NRF2) response seen in affected corneas. The goal is to link genetic findings with tissue-level changes to discover biomarkers and potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal participants include people diagnosed with keratoconus, especially those willing to provide clinical data, family members for genetic studies, or donors of corneal tissue.
Not a fit: People without keratoconus or those needing immediate surgical correction should not expect direct, immediate benefit from this research.
Why it matters
Potential benefit: If successful, this work could enable earlier diagnosis through biomarkers and point to new treatments that slow or prevent vision loss from keratoconus.
How similar studies have performed: Previous genetic and tissue studies have identified some candidate genes and corneal pathway changes, but combining family exome sequencing with detailed tissue proteomics and transcriptomics is a more comprehensive and newer approach.
Where this research is happening
New York, United States
- New York University School of Medicine — New York, United States (Active)
Researchers
- Principal investigator: Chakravarti, Shukti — New York University School of Medicine
- Study coordinator: Chakravarti, Shukti
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.