A Blood Test to Measure Genes Associated with Macular Degeneration

We aim to develop engineered serum markers that will allow us to monitor gene expression changes underlying age-related macular degeneration in an intact retina.

One can gain a lot of information from excising a tissue and analyzing its biochemical behavior, such as expression of genes underlying disease. However, for the retina such excision is impossible as it would result in vision loss. We are using a cutting-edge technology to measure activity of genes within the retina with a blood test. Specifically, we are focusing on two genes that are suspected of increasing the risk of developing a vision disorder called age-related macular degeneration. If we are successful, doctors could measure expression of patients genes in retina without damaging it.

This approach is unique as to date, monitoring gene expression changes in the retina is very difficult. Usually, such changes in tissues are monitored with biopsy. However, we cannot biopsy a retina with damaging vision, which prevented scientists from understanding molecular changes happening in the eye as the diseases progressed.

If we are successful, we hope to first use this technology to study the temporal progression of gene expression in lab models. However, the constructs we use can eventually also be used in the clinic to understand who is at risk for AMD and what genes need to be stopped to prevent its progression.