Evaluation of Ophthalmic Disease from Cell Free DNA in the Aqueous Humor
The aqueous humor harbors potential intraocular disease markers, particularly in retinoblastoma which can inform diagnosis
Retinoblastoma is a rare eye cancer. It occurs in children of age less than 15 years; the disease is common in children younger than five years, especially in children less than two years. The disease affects the retina and is caused by a mutation in the gene RB1. There are currently no molecular-based prognostic tests for evaluation of the tumor.
The aqueous humor is the clear fluid in the front of the eye between the cornea and the lens. The inventors have shown that it harbors potential intraocular disease markers, particularly in retinoblastoma which can inform diagnosis, prognosis and dictate personalized medicine. More specifically the inventors have shown for the first time that liquid biopsy from the aqueous humor contains cell-free DNA markers of retinoblastoma (). Recently published research suggests epigenetic markers, specifically DNA methylation, may offer further utility beyond the current genomic sequence and copy number biomarkers.
- Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma, https://mcr.aacrjournals.org/content/16/11/1701.long
- Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma, https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2656334
- Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy. Nature Communications 21 September 2022, https://doi.org/10.1038/s41467-022-33248-2
- Minimally invasive, no direct tumor biopsy
- Diagnostic and prognostic
- May provide novel insights into tumor progression at the molecular level
- Cancer research
- Ophthalmic diseases beyond cancer
CHLA Case Nos. 2018-004 and 2022‑007
Looking for partner to collaborate on research, development and commercialization.
- PCT/US19/26221 pending application
- Provisional patent application for methylation biomarkers
- Patent application submitted
- Provisional patent
- Development partner