BBB seminar: Cecilie Bredrup

Cecilie Bredrup
Department of Clinical Medicine, University of Bergen

Our research group studies a group of hereditary fibrous growth disorders characterized by corneal neovascularisation and skin inflammation in the form of keloids or chronic inflammation. We have identified several novel genes in which missense mutations are associated with these conditions. Two of these genes, PDGFRB and DDR2, encode tyrosine kinase receptors. 

We have shown that mutations in both tyrosine kinase receptor genes cause autophosphorylation of the receptors and in this way activate the receptor. For PDGFRB, various missense mutations give rise to distinctly different conditions ranging from an isolated eye/skin phenotype to a severe condition with premature aging, lipodystrophy and scoliosis, in addition to blindness and chronic skin inflammation. Interestingly both these missense mutations are located in the same codon of the receptor and are sensitive to imatinib, a well-known drug with limited side effects.

This talk will go through advanced diagnostic work-up, via the lab bench, and back to the patients with an option for precision medicine treatment.

Chairperson: Jaakko Saraste, Department of Biomedicine