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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