The Segrè Lab is focused on developing computational and statistical methods for studying the genetic and biological basis of common eye diseases, such as age-related macular degeneration, glaucoma, and diabetic retinopathy. Since most common DNA variant associations found to date for polygenic diseases lie in noncoding regions, we take advantage of functional data of genetic regulation of gene expression in relevant tissues or cell types, and knowledge of biological pathways, to enhance genetic discoveries from genome-wide association and sequencing studies of complex diseases.
The lab’s main research directions include:
• Integrating epigenetic, expression quantitative trait loci and transcriptome data from eye and other tissues with whole genome association and sequencing studies to discover new genes and regulatory elements associated with complex eye diseases.
• Pathway analysis of rare and common variant associations with complex diseases
• Fine-mapping of known genetic associations with complex eye disease that lie in noncoding regions
• 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.
The Segrè Lab welcomes applications from postdoctoral fellows, graduate students, and bioinformaticians/computational biologists. Interested applicants should send their CV, cover letter, and contact information for 3 references to Dr. Ayellet Segrè: ayellet_segre [at] meei.harvard.edu.
To learn more about the Segrè lab, please visit: https://www.asegrelab.org/