Dr Irina Pulyakhina
Functional genomics of ankylosing spondylitis
We are using functional genomics to understand the mechanism of ankylosing spondylitis (AS), a chronic imflammatory disease with strong genetic predisposition. Recent research has identified Genome-Wide Association Studies (GWAS) loci relevant for AS, and using next generation sequencing (NGS) and chromatin accessibility assays we look into the spatial accessibility of loci involved in the regulation of transcription and gene expression. We also aim to connect data on chromatin structure with gene expression profiles (generated with RNA sequencing) to pinpoint at the most relevant regulatory elements effected in AS patients. This project is sponsored by Arthritis Researchc UK.
Irina performed her PhD in 2011-2015 at Human Genetics Department of Leiden University Medical Centre in the Netherlands, where she focused on different biological and medical applications of RNA sequencing – high-throughput sequencing of RNA material. Her worked included such transcriptome analyses as differential gene and transcript expression, investigating details of multi-step splicing, allele-specific expression and RNA editing in human healthy individuals, breast cancer patients and a human cohort of healthy individuals of various ages.
Keywords: Ankylosing Spondylitis, Functional Genomics, Chromatin accessibility, GWAS, Gene Expression