Cisca Wijmenga is the Lodewijk Sandkuijl Professor of Human Genetics at the University of Groningen and the University Medical Center Groningen. Her group is one of the world leaders in the genetics of celiac disease. Her research work centers on understanding genetic variation, how this leads to phenotypic variation, and the relationship with the disease. Her research is interdisciplinary, encompassing the fields of genetics, molecular genetics, epidemiology, immunology, microbiology, computational biology and bioinformatics.
Over the past 10 years, her research has led to the identification of some 40 genetic risk factors that collectively explain 50% of the genetic variation (single nucleotide polymorphisms or SNPs) contributing to celiac disease, one of the most common diet-induced gastrointestinal diseases affecting some 1% of Western populations. Her research group investigates how genetic variation contributes to disease mechanisms by focusing on the regulatory networks of immune cells. Her work has clearly demonstrated that celiac disease SNPs are active in immune cells, interfere with regulation of gene expression, and often interfere with non-coding RNA genes (in particular lncRNAs). To reveal the celiac disease ‘regulome’ and better understand the role of lncRNAs in disease, the group uses state-of-the-art techniques like ATAC-seq and SURE-seq to decode the non-coding part of the genome into functional elements in each cell type relevant for celiac disease.
Her group has strong bioinformatics expertise and uses this in systems approaches to model regulatory gene networks perturbed by genetic variation or physiological stressors like infectious agents or dietary gluten. To this end she founded a functional genomics cohort (LIfeLines Deep) of ±1500 individuals including detailed phenotypes (~1500 clinical, lifestyle, dietary features) and multi-layered ‘omics’ data (genetic, transcriptomic, epigenetic, metabolite, microbiome). Lifelines Deep is part of a large prospective population-based cohort of 167,000 participants from the Northern part of the Netherlands. Part of the larger cohort is currently being genotyped. This cohort will also help to investigate why not everybody with high-risk for celiac disease manifest the disease by linking genetics to a wide range of phenotypic factors like lifestyle, socio-economic and the gut microbiome.
Her research is supported by an ERC advanced grant. She was a visiting scientist to the group of Prof. Riita Laheshmaa supported by the Sigrid Jusélius Foundation grant. For her work on celiac disease she was awarded the Spinoza price in 2015. She is a member of the Royal Holland Society of Sciences and Humanities (KHMW), the Academia Europaea, and the Dutch Royal Academy of Arts and Sciences (KNAW).