Research

Areas of Focus

The overarching goal of our research is to make robust new biological discoveries, uncovering how variation in the genome, transcriptome or metabolome is associated with health-related traits and diseases. In our projects, we have a particular focus on two main areas: pregnancy and selected diseases in young children. Our studies are typically based on information from Danish health registers (in the form of, e.g., diagnosis and surgery codes) and use biological specimens from the Danish National Biobank for genotyping and other analyses. Other important resources that we use include the Danish National Birth Cohort, the Danish Blood Donor Study, Copenhagen Hospital Biobank, and the iPSYCH study. These resources allow us to conduct studies that would not be feasible anywhere else in the world

Highlighted Research Projects

Febrile seizures

Febrile seizures affect 1 in 25 children before the age of 5, and thereby represent the most common type of pathological brain activity in young children. Yet there is still much to be learned about the underlying genetic, developmental and environmental factors. Based on health register data on hospital admissions with febrile seizures and on samples from the Danish National Biobank, we have carried out the world’s largest genome-wide association studies (GWAS) of the condition. For example studies see:

Genetic studies of pregnancy and birth

When a woman is pregnant, when she delivers is important to the health of herself and her child. Preterm birth is a major cause of health problems and is the leading cause of death in children under the age of 5 years worldwide. Conversely, if a pregnancy goes far past the due date, the risk of birth complications and stillbirth increases. But what determines when a woman goes into labor? Also, the growth of the fetus and of the placenta are important for proper development of the baby and is associated with future health. In collaboration with numerous international groups, e.g. in the Early Growth Genetics Consortium, we have identified robust associations between common genetic variation and a range of outcomes related to pregnancy and birth. For example studies see:

You can hear about the research In this Podcast

Genetics, metabolism, and the risk of a digestive system disease in newborns

The disease pyloric stenosis was characterized by the Danish pediatrician Harald Hirschsprung in the late 19th century. In a series of studies, we analyze genetics and metabolomics using dried blood spot samples obtained a few days after birth. One notable finding is that genetic variants influencing blood lipid levels are also associated with the risk of pyloric stenosis. For example studies see:

Genetic studies in Greenland

For thousands of years, Greenlanders have lived in isolation and have eaten a diet high in fat and low in carbohydrate. We have conducted a population-based health study in seven towns across Greenland and have conducted studies of genetics and metabolism in collaboration with researchers at the University of Copenhagen and elsewhere. For example studies see: