Achucarro Seminars

19 Jan [2018]

at 13.00 CET

Delivering on GWAS: how to translate genetic findings in complex disease

Stephen Eyre

University of Manchester


The foundation and major cause of rheumatoid arthritis (RA) is contained in the patient's genetic background. Genome wide association studies (GWAS) have been successful in locating regions of the genome associated with disease but there has been limited success in translating these findings.

In order to translate these findings the next pivotal stage is to determine the genes, cell types, stimulatory conditions and biological pathways implicated by the GWAS findings in RA. In this talk I will describe a pathway from GWAS SNP to target, utilising cutting-edge technology in nuclear dynamics (HiC), functional genomics (ChiP; ATAC-seq) bioinformatics, statistical genetics and genome editing (CRISPR-Cas9), to determine empirically the direct effect on cellular phenotype, using techniques such as CyTOF and single cell RNA-seq.

Host: Koen Vandenbroeck