Genetics

We are an active and driven department of more than 350 researchers, clinicians, data and lab specialists and support staff who collaborate across groups that specialise in complex diseases, rare monogenic disorders, cutting-edge bioinformatics, big data analysis, microbiome and exposome, ELSI applications and new diagnostics. The Department is also home to the Genomics Coordination Center, the EUROCAT birth registry and the Lifelines NEXT mother-baby cohort. We are connected to the community around us through collaboration, teaching and outreach.

We collaborate

We work very closely with the Lifelines population cohort and biobank and with patient cohorts within the UMCG to establish the causes of health and disease in the Northern region of the Netherlands. Nationally, we are critically involved in biobanking efforts through BBMRI and Health-RI, in the development of organ-on-chip methods within the Netherlands Organ on Chip Initiative and in the exploration of the exposome through the Exposome NL project. We also collaborate closely with researchers at other Dutch hospitals and universities and have long-standing collaborations with researchers across the world.

We teach

As a joint research and clinical department, we are involved in educating the doctors and researchers of the future, and members of the department teach and develop curriculum for courses in systems medicine and big data approaches in medicine, as well as many other programs. We also mentor students through their master’s research internships, and many continue on with us to carry out PhD research. Finally, we are home to more than 50 PhD and postdoctoral researchers, who are the beating heart of our research programs.

We reach out

Members of our department have pioneered new ways to directly involve patients with rare monogenic disorders and their families in research through social media. We are also at the forefront of research into the Ethical, Legal and Social Implications of genetic healthcare – piloting programs for the ethical implementation of preconception screening and carrying out research into how to communicate genetic findings to patients, carriers and families. We also create new ways of communicating research directly. Very early in the COVID-19 pandemic members of the department designed and implemented the Corona Barometer website to share Lifelines COVID-19 questionnaire results with the public, a format that provided a model for later national efforts and continuously updated our community about how people in the Northern Netherlands were experiencing the effects of the pandemic.

Our department combines forefront fundamental genetics research with cutting-edge diagnostics and advanced clinical care. We carry out high-profile research into the causes of monogenic and complex genetic diseases by applying next generation sequencing and omics technologies to population and disease cohorts. To do this research, we build better cohorts and develop new in vitro and in silico technologies to explore and understand the effects of genetics and how genetics interacts with our environment. To bring this scientific knowledge to the clinic, we develop new diagnostic approaches and new ways of communicating genetic information.

The population-based cohorts in which we have generated (single-cell) multi-omics data enable us to identify associations between genome, epigenome, gene expression, proteome, metabolome, microbiome and disease. In the last five years, these functional genomics strategies have generated novel scientific insights for many different types of diseases that we are now following-up using CRISPR, iPSC, organoids and organs-on-a-chip in order to gain deep mechanistic insight into the key determinants of disease.

Our recent bench-to-bedside successes include:

• increases in the diagnostic yield of exome and genome sequencing;
• amethod to differentiate between inflammatory bowel disease & irritable bowel syndrome using gut microbiome data;
• polygenic risk scores (e.g. for cardiovascular disease);
• pharmacogenetics passports;
• identification of drug targets and biomarkers;
• discovery of environmental factors that help prevent disease (e.g. specific microbes);
• continuous monitoring of the impact of the COVID-19 pandemic on physical and mental health;
• rapid exome screening for serious monogenic disorders;
• rapid exome/genome screening for seriously ill newborns;
• introduction of preconception carrier screening of serious non-treatable autosomal recessive disorders.