Genetic And Molecular Similarity Of Autoimmune Disease
 

Autoimmune diseases are clinically and genetically heterogeneous, yet many share overlapping molecular pathways and genetic risk factors. Despite advances in identifying common variant associations through genome-wide association studies (GWAS), the contribution of rare variants remains poorly understood. This project focuses on uncovering the genetic and molecular similarities across autoimmune diseases, with particular emphasis on the role of rare variants. Using rare variant burden testing on whole genome sequencing data from the UK Biobank, the study aims to identify genes and pathways enriched for potentially deleterious variation in affected individuals. These findings are further evaluated using tissue-specific expression data and functional enrichment analyses to assess biological relevance. The initial analysis focuses on Pemphigus Vulgaris, a rare autoimmune blistering disorder, as a preliminary case study to establish a scalable framework for rare variant analysis in autoimmunity. The broader goal is to expand this approach across additional autoimmune phenotypes, contributing to a deeper understanding of shared mechanisms and supporting the development of future personalized therapeutic strategies.