Research

In the Segrè Lab we are interested in identifying new genetic risk factors and the causal genes and pathways that lead to the development of common eye diseases, including age-related macular degeneration, glaucoma, and diabetic retinopathy. Given that the majority of common DNA variant associations found to date for complex diseases lie in noncoding regions, we are developing computational and statistical methods that integrate prior knowledge of genomic regions that regulate gene expression in relevant tissues or cell types, with whole genome sequencing and association studies, to increase detection and explanatory power of common and rare variants associated with complex traits.

The lab’s main research directions include:

• Integrating expression quantitative trait loci (eQTLs), epigenetic, and transcriptomic data from eye and other tissues with whole genome association (GWAS) and sequencing studies to discover causal genes and the regulatory mechanisms associated with complex eye diseases.

• Building a Human Eye Cell Atlas for a range of healthy eye tissues, and developing methods that use single cell RNA-seq and genotype data to identify pathogenic cell types, genes and pathways for complex eye diseases.

• Fine-mapping of known genetic associations with complex eye disease that lie in noncoding regions

• Pathway analysis of rare and common variant associations with complex diseases

• Role of the immune system in common eye diseases

• Pharmacogenomics of undesired response to ocular drugs

• Drug repurposing and adverse drug effect prediction through cross-trait genetic association analyses.

• Relationship between the genetic and biological causes of rare and common retinal degeneration diseases.