Investigating Genetic or Immune Factors in Age-related Macular Degeneration

Michelle Grunin, PhD Hebrew University of Jerusalem


Shai Carmi, PhD


Utilizing novel genetics tools and analyses to identify new genetic or immune system risk factors or targets for the treatment of age-related macular degeneration by exploring diverse study populations Previous studies only included European populations to identify AMD genetic risk factors. We will utilize the power of diverse ancestry data via the International AMD Consortium to look for common novel risk/protective genetic factors in unstudied ancestries. Afterward, we will look at novel rare variants possibly present in small subsets, utilizing novel tools/data. Finally, we will look at the immune system contribution to AMD by identifying gene expression changes and variants influencing gene expression in monocytes or other white blood cells with a known contribution to AMD pathogenesis.

Project Details

Undiscovered genetic variants in unrepresented ancestries may be a novel risk or protective factors for AMD. Utilizing the large-scale dataset of over 52,000 individuals of the IAMDGC to investigate genetic and immune factors for AMD could identify new pathways involved in AMD pathogenesis. Investigating the immune cells most known for their involvement in AMD and applying it to a large-scale dataset allows both genetics and transcriptomics to collide in big data analysis for understanding the genetic architecture of AMD. We hope this large-scale genetic and transcriptomic analysis of AMD will allow for identifying novel pathways, understanding pathogenesis, and possible treatments for AMD based on new variants. Underrepresented ancestries will be included and investigated for the first time, and rare variants that were not previously found may be identified and then utilized for pharmacogenetics or other personalized medicine approaches. The further investigation of the immune system allows for a novel understanding of its relationship to AMD and the pathways contributing to AMD disease.