Midtveisevaluering - Linda Xu

Linda Xu er tilknyttet Klinisk institutt 1. Veiledere er Cecilie Bredrup og Eyvind Rødahl.

Prosjekt

Molecular mechanisms for disease causing mutations in DDR2 and development of targeted treatment for affected patients

Abstract

Corneal vascularization is a major health problem affecting more than 1,4 million people only in the US. In addition to causing discomfort and reduced vision, presence of these vessels is associated with unfavorable outcomes following corneal surgery. Our research group use hereditary forms of corneal vascularization and keloids to elucidate pathways involved in disease development. The long-term aim is to offer patients improved treatment.

In one of the hereditary conditions corneal vascularization is accompanied by keloids, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. We have proposed this condition to be called Warburg Cinotti Syndrome.

We have identified two activating mutations in the DDR2 gene: p.(Leu610Pro) and p.(Tyr740Cys) that are associated with this condition. The aim of this PhD project is to characterize this condition in more detail, to prove causality of the identified mutation and to and investigate the molecular mechanisms behind this new hereditary disease. Further, to examine treatment options for affected individuals.