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Thoracic aortic aneurysm and dissection

Syndromic and non-syndromic hereditary aortopathies frequently lead to life-threatening complications. A molecular genetic diagnosis is strongly recommended in order to plan treatment, but the diagnostic rate is low (approximately 20%), potentially due to yet unidentified disease genes or non-coding pathogenic variants. Within CADS and funded by the German Research Foundation (sequencing costs in projects), we perform whole genome sequencing (WGS) of 300 clinically selected individuals from our cohort as a ‘one test for all’ solution to identify coding, non-coding, and structural alterations affecting thus far unknown disease genes or genomic regions. The patient’s phenotype will be recorded in the Institute of Medical Genetic and Human Genetics and the Division of Genetic Aortic Diseases and stored using SAMS. Additionally, we will identify regulatory elements and splice isoforms in aortic tissue using WGS, HiC, RNA-, ATAC- and ChIP-seq in close collaboration with the German Heart Centre. These investigations will be performed using VarFish and MutationDistiller in close collaboration with BIH CUBI and the Bioinformatics and Translational Genetics group. This project will uncover regulatory elements and gene expression profiles relevant for the primarily affected tissue in aortopathies and will close part of the diagnostics gap for the affected individuals. 

Participating Clinics and Infrastructures

[Translate to englisch:] Projektleitung

Dr. Björn Fischer-Zirnsak

Contact information
Address:Charité - Universitätsmedizin Berlin
Augustenburger Platz 1
13353 Berlin Berlin

E-mail:bjoern.fischer@charite.de