Research in congenital disorders

Research in the Department of Congenital Disorders focuses on the discovery of genetic and early biochemical markers for congenital diseases.

The core areas are metabolic, cardiovascular and hormonal diseases, neuro-psychiatric diseases and premature birth. In addition, we conduct research to expand and improve the screening of newborns (inborn error of metabolism especially) and to develop a vaccine against malaria. Research is mainly funded by external partners (national and international).

The department includes the Danish Center for Neonatal Screening, whose mission is to screen all the country's newborns for serious congenital diseases, and which is responsible for storing the excess samples in the Danish National Biobank for research purposes.

The department’s research activities mainly focus on the analysis of very precious and special sample material called dried blood spots (blood spots on paper) collected during the screening of newborns. The department has a long tradition of developing highly sensitive multi-analytical methods adapted to these samples and based on mass spectrometry, immunochemistry, and a number of molecular biology and genetics technologies including metabolomics, genomics, next-generation sequencing (NGS)- and array-based epigenetics and expression analysis. These genetic and biochemical analysis data sets are combined to health data from Danish registries, and aim at identifying early disease markers and developing knowledge on the causes and onset of various diseases. This provides Danish researchers with unique opportunities in the medical field.

The department collaborates with a large number of Danish and foreign research groups and would like to contribute with their analytical expertise in new collaborative projects.

Research in the department

Mette Nyegaard


Mette Nyegaard , Congenital Disorders
T. +45 32688136 @. View profile