Deep whole-genome sequencing of eye fluid to diagnose childhood eye cancers
Official title: Deep Whole Genome Sequencing of Aqueous Humor cfDNA for Diagnosis of Intraocular Malignancies
Funded at Olmeda Biosciences LLC · NIH-11406648 · Data updated 2026-11-12
A new lab test using tiny samples from the eye’s fluid could help doctors confirm dangerous eye cancers in children without risky biopsies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Olmeda Biosciences LLC NIH-funded |
| Lab location | 1 site (San Diego, United States) |
| Project start | September 7, 2026 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $398,880 |
| NIH project number | 1R42CA314557-01 |
| Project ID | NIH-11406648 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with suspected intraocular cancers (such as retinoblastoma) where biopsy is unsafe or not feasible.
✕Less likely to help
Patients with non-cancer eye conditions or cancers not detectable by cfDNA in aqueous humor may not benefit.
What this research studies
Retinoblastoma is the common childhood eye cancer where biopsy isn’t safe, leading to treatment decisions without tissue confirmation. This grant supports developing a CLIA-certified, ultra-low-input whole-genome sequencing test on aqueous humor cfDNA to detect cancer genome changes. The approach uses a single-tube workflow to analyze all genetic information from less than 1 ng of material, aiming for a rapid turnaround and minimal delays. If successful, clinicians could more accurately distinguish malignant from benign eye conditions and tailor therapies while avoiding unnecessary procedures. The project includes chemistry optimization, quality control, and a prospective clinical validation at a major pediatric medical center.
Why it matters
Potential benefit: It could provide a safer, more accurate way to diagnose intraocular cancers in children and guide treatment without invasive biopsies.
How similar studies have gone: Previous methods often rely on targeted tests; this project aims to deliver a comprehensive genome-wide approach, with prior work suggesting cfDNA in ocular fluids can reflect tumor DNA.
Where this research is happening
-
Olmeda Biosciences LLC
San Diego, United States Active
Researchers
- Principal investigator: Xu, Liya — Olmeda Biosciences LLC
- Study coordinator: Xu, Liya
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.