We explore genetic variation and genetic diseases and develop molecular diagnostic tools and strategies, to increase the quality and throughput of the molecular diagnostic methods. Further, we expand our understanding of the genetic variants' contribution to specific clinical phenotypes.
Currently, we are working with the following projects:
- Characterisation of a large cohort of patients with hereditary hyper- and hypocalcemia, disorders caused by three to five genes, but representing a diagnostic challenge due to a large clinical overlap with other diseases of the parathyroid.
- Investigation of the genetics of sudden unexpected death, with a focus on atherosclerosis and familial hypercholesterolemia, a frequent oligogenic condition, with the LDL-receptor gene and ApoB gene as the major contributors.
Genetic characterisation of patients with defects in naturally occurring anticoagulants, and establishment of genotype-phenotype correlation through family studies.