Research Areas - Clinical Genetics
We study genetic disorders on a molecular level in order to understand disease mechanisms and apply new knowledge in genetic diagnostics. Our main interests are developmental disorders and malformations in the central nervous system, eczema, inherited immune defects and leukemia.
We try to understand why patients with apparently identical forms of cancer show different course of the disease. We study chromosome aberrations and gene expression in different types of cancer cells.
Studies of the rare recessive Familial Hemophagocytic Lymphohistiocytosis (FHL) outlines mutations in known disease genes and tries to identify “new” genes for the disease in collaboration with scientists at the pediatric oncology unit.
Complex genetic disorders
The main interest are a couple of common disorders with combined genetic and environmental etiology. We study atopic eczema which affects about 10% of all children and developmental delay with a prevalence of about 2%. By family studies and expression analysis we have identified chromosomal genes predisposing for eczema. The main focus is presently on skin barrier genes.
Several lines of evidence indicate that genetic factors are important for developmental delay. We study constitutional chromosome abnormalities at the molecular level and “candidate genes” by sequence analysis. By outlining genetic mechanisms for birth defects we hope to explain the background for these handicaps and elucidate normal human development.