Research Makes Medicine

Dr Dwight StambolianThe SupportSight Foundation continues to fund groundbreaking research that was started many years ago by the Macula Vision Research Foundation (MVRF). Our mission to save sight for millions with MacD – is all we do!

Read About the Exciting New Progress to Find a Cure for Macular Degeneration

Title: Implication of specific retinal cell‑type involvement and gene expression changes in AMD progression using integrative analysis of single‑cell and bulk RNA‑seq profiling

Contributing Authors: Yafei Lyu, Randy Zauhar, Nicholas Dana, Christianne E. Strang, Jian Hu1, Kui Wang, Shanrun Liu, Naifei Pan, Paul Gamlin, James A. Kimble, Jeffrey D. Messinger, Christine A. Curcio, Dwight Stambolian & Mingyao Li

Age‐related macular degeneration (AMD) is a blinding eye disease with no unifying theme for its etiology. We used single‑cell RNA sequencing to analyze the transcriptomes of ~ 93,000 cells from the macula and peripheral retina from two adult human donors and bulk RNA sequencing from fifteen adult human donors with and without AMD. Analysis of our single‑cell data identified 267 cell‑type‑specific genes. Comparison of macula and peripheral retinal regions found no cell‑type differences but did identify 50 differentially expressed genes (DEGs) with about 1/3 expressed in cones. Integration of our single‑cell data with bulk RNA sequencing data from normal and AMD donors showed compositional changes more pronounced in macula in rods, microglia, endothelium, Müller glia, and astrocytes in the transition from normal to advanced AMD. KEGG pathway analysis of our normal vs. advanced AMD eyes identified enrichment in complement and coagulation pathways, antigen presentation, tissue remodeling, and signaling pathways including PI3K‑Akt, NOD‑like, Toll‑like, and Rap1. These results showcase the use of single‑cell RNA sequencing to infer cell‑type compositional and cell ‑type‑specific gene expression changes in intact bulk tissue and provide a foundation for investigating molecular mechanisms of retinal disease that lead to new therapeutic targets.

Research Grant Information

As a public charity, TSSF’s mission is to save sight for millions of people who suffer from age-related macular degeneration (AMD) and lose their precious vision. TSSF is a unique, innovative partner with the Principal Investigator (PI) and the project collaborators in ways public funding sources are not. As a private funder our position is founded on the premise that TSSF’s coveted vision research funds enhance other public and private funding resources secured by the PI and/or the project team members.

Research Makes Medicine
Vision Research Grant Program

This program supports basic and applied research directed toward understanding the pathogenesis of age-related macular degeneration (AMD or MacD). TSSF is laser-focused on the science conducted by experienced, published world-class vision researchers – Principal Investigators (PI) – who lead a team of researchers on the path to discovery. The PI’s whose body of research over time has developed and positively impacted preventative measures, treatments, and a cure for this blinding disease that affects millions of people and their families.

Preference is given to funding research programs directly related to the genetics, molecular, cellular, pathology, diagnosis, and treatment of macular degeneration that cause vision loss. The Research Makes Medicine program may also involve research related to the development of new technologies for understanding, diagnosing, and treating retinal degenerative diseases.

We also consider projects where there is a need for additional funding that will advance or enhance an existing promising research project to completion. TSSF encourages “breaking down the research silos” that exist within the scientific community. Sharing ideas and findings is critical to the discovery of new treatments and a cure for MacD. In that vein, all proposed projects must involve collaborative partnerships between institutions and/or between departments within an institution.

 

Proposals by invitation only.

Purpose: Outline the association between age-related macular degeneration (AMD) and functional difficulty.

Dawn taught me that research makes medicine and supporting retina research is why I continue to support their work.

John B.