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Ph.D. Student Enrolment Project Title Supervisors : Pernille Mathiesen Tørring : 1 june 2010 : Gene expression associated with Hereditary Haemorrhagic Telangiectasia : Anette D. Kjeldsen, MD, Ph.d., Associate Professor, Department of Oto-rhinolaryngology, Odense University Hospital. Klaus Brusgaard, MSc, Ph.d., Lilian Bomme Ousager, MD, Ph.d., Associate Professor and Qihua Tan, MD, Ph.d., Associate Professor. All three Department of Clinical Genetics, Odense University Hospital. Institute : Institute of Clinical Research Research Unit : Oto Rhino Laryngology Abstract: Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominantly inherited disease causing development of arteriovenous malformations in mucosa and in visceral organs. The most common symptom is epistaxis. However the disease may cause a wide variety of other serious symptoms as pulmonary arteriovenous malformations (PAVM), cerebrale arteriovenous malformations (CAVM) and gastrointestinal bleeding. HHT, as a disease, present itself very heterogeneously. Significant intrafamilial as well as interfamilial variations are observed in the HHT families, suggesting that unidentified epigenetic factors and/or modifying genes play a role. HHT is caused by mutations in the gene ENG placed on chromosome 9q34 or by mutations in the gene ACVRL1 on chromosome 12q. We plan to compare HHT and non-HHT tissue, using microarray gene expression technology, in order to identify modifier genes affected in HHT patients and possibly revealing more of the molecular pathways explaining HHT and the great variation in phenotype. Keywords: Clinical Research