Dr Rebecca McIntyre

Principal Staff Scientist

My primary interest lies in understanding how faulty genes cause human disease. I lead a team of experimental scientists that use the latest cellular, gene editing and sequencing technologies to uncover the role of genetic variants in risk for disease. My work is carried out in close collaboration with UK clinicians, statistical geneticists and computational biologists.

Principal Staff Scientist

My team is currently focused on understanding the role of rare variants in risk for inflammatory bowel disease (IBD). I worked closely with a UK network of Consultant Gastroenterologists and with my experimental team to obtain, ship and process the samples. We apply single cell genomics to intestinal cells and PMBCs isolated from hundreds of healthy individuals or those with active IBD.ย  Together with the Anderson Lab computational biologists and statistical geneticists, I play a leading role in the interpretation of the data. We are building molecular QTL maps for all cell types of the intestine and will colocalise signals with risk loci for IBD to identify the effector genes, key cell types and biological networks that play a causal role in IBD.

With our Pharmaceutical partners, we prioritise all identified targets or pathways for validation. For target validation, we use several model systems, including primary T cells, iPSC-derived macrophages and organoids, and primary enteroids. We either embrace natural genetic variation (e.g. genotyped cells obtained from Biobanks), or introduce genetic mutations using CRISPR/Cas genome editing technologies. We use genomic and HTP cellular assays to identify the cellular mechanisms perturbed by the IBD risk variants.

My timeline

 

My publications

Loading publications...

Connect with me on Twitter