Genome-wide association studies (GWAS) have identified multiple loci associated with complex diseases, but these are mostly on regulatory genes in the non-coding part of the genome and it has proved difficult to identify the effector genes that they control. Now, researchers in the U.K. have shown how single cell sequencing at scale can be used to precisely link non-coding GWAS loci to specific protein coding genes and cell types.

A recent paper has identified the enhancer ETS2, located in a so-called gene desert, as a contributor to five separate immune disorders. It also showed that one of ETS2’s target genes mediating this inflammation was the eminently druggable MEK, a kinase that is the target of the FDA-approved inhibitors Mekinist (trametinib, GSK plc), Mektovi (binimetinib, Array Biopharma Inc.), Cotellic (cobimetinib, Roche Holding AG) and Koselugo (selumetinib, Astrazeneca plc/Merck & Co. Inc.).