Masterarbeit in (Human-)Biologie oder Medizin

Masterarbeit in (Human-)Biologie oder Medizin
Thema
Candidate Gene Analyses in Patients with Suspected Marfan Syndrome
or Related Aortic Diseases
Kurzbeschreibung
Marfan syndrome (MFS) is an autosomal dominant connective tissue
disorder, which displays variable manifestations in the skeletal, ocular, and
cardiovascular systems. The majority of patients with suspected MFS
referred for molecular genetic testing carry the disease-causing mutation in
the genes FBN1, TGFBR1, and TGFBR2. However, in ~10-30% of the
cases comprehensive molecular genetic testing fails to detect mutations in
FBN1, TGFBR1, and TGFBR2, suggesting the involvement of other genes
as the underlying genetic cause. The aim of the master project is to
identify/analyze novel/candidate gene(s) in patients with suspected MFS in
whom previous mutation analyses of FBN1, TGFBR1, and TGFBR2
detected no mutation. The outcomes of the project will not only extend the
molecular etiology of MFS and/or its related disorders but also will help to
elucidate the molecular defect in patients with life-threatening aortic
aneurysms, dissections, and ruptures, enabling presymptomatic diagnosis
and genetic counseling in the affected families.
Betreuer
Priv.-Doz. Dr. Gabor Matyas
Zentrum für Kardiovaskuläre Genetik und Gendiagnostik
Wagistrasse 25, 8952 Schlieren
[email protected]
Tel. 043 433 86 70
Beginn/Dauer
Spezielle
Voraussetzungen
Links
Nach Vereinbarung / (9-)12 Monate
zuverlässige Arbeitsweise, gute Grundkenntnisse
www.genetikzentrum.ch
http://www.ncbi.nlm.nih.gov/books/NBK1335