Cell and genetic causes of keratoconus
Official title: Cellular and Genetic Defects in Keratoconus
Funded at New York University School of Medicine · NIH-11262821 · Data updated 2026-11-12
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 start | June 10, 2016 |
| Project end | January 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $618,407 |
| NIH project number | 5R01EY026104-07 |
| Project ID | NIH-11262821 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal participants include people diagnosed with keratoconus, especially those willing to provide clinical data, family members for genetic studies, or donors of corneal tissue.
✕Less likely to help
People without keratoconus or those needing immediate surgical correction should not expect direct, immediate benefit from this research.
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.
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 gone: 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 University School of Medicine
New York, United States Active
Researchers
- Principal investigator: Chakravarti, Shukti — New York University School of Medicine
- Study coordinator: Chakravarti, Shukti
Related research
Other NIH-funded projects on the same topics.
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Engineered Cornea Chip to Study Keratoconus Curvature
A patient-friendly model of keratoconus will be created on a tiny, engineered eye chip to study how shape changes affect eye tissue and to identify potential new treatments.
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How hormones and the pituitary may affect keratoconus
This project looks at whether sex hormones and pituitary signals change the cornea in people with keratoconus to help explain why the disease starts and progresses.
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Wide-view cornea imaging to detect keratoconus
This project is building a wide-field corneal OCT scan to spot tiny early changes in the cornea in people with or at risk for keratoconus.
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Exploring the connection between keratoconus and sex hormones
This study is looking at how sex hormones might affect keratoconus, an eye condition that can worsen vision, to help find better ways to manage it and improve care for people dealing with this issue.
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Improving early detection of keratoconus using advanced imaging technology
This study is testing a new imaging technology that helps doctors spot keratoconus earlier by taking detailed pictures of the eye's surface, which could lead to better treatment and help protect your vision.
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Preventing cell death in corneal cells to treat keratoconus without surgery
This study is looking for new ways to help people with keratoconus, a condition that affects vision by thinning the cornea, by finding treatments that can keep important cells in the eye alive and healthy.
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.