- Academic department: KLIW / Centre for Medical Genetics
- Subject area: Medical Genetics – cardiogenetics
Computational genetic research (biostatistics / bioinformatics) in the complex hereditary cardiac arrhythmia, Brugada syndrome
Computational (biostatistics / bioinformatics) doctoral research into the genetic complexity of the inherited cardiac arrhythmia, Brugada syndrome in a collaboration between VUB, (IB)2 (http://ibsquare.be/) and BRIGHTcore (http://www.brightcore.be/) in context of the IMAGica (Integrative personalised Medical Approach for Genetic diseases, Inherited Cardiac Arrhythmias as a model) project.
In the genomic era, in which a large proportion of genes responsible for monogenic disorders have been identified, it remains a challenge to unravel the genetic architecture and cause of complex traits.
Up to now, the next generation sequencing based exome analysis was not really successful in unraveling the molecular genetic cause of the hereditary cardiac arrhythmia, Brugada syndrome.
In the IMAGica project we wish to answer the scientific question whether Brugada syndrome can still be considered as a pure, Mendelian, monogenic ion channel disorder or should be regarded as a multiple hit disease model. We want to analyze on the one hand the oligo- to polygenic effect and on the other hand the (somatic) mutation contribution.
The project is mainly computational and focuses on
- genome-wide association studies
- mutation load analyzes
using next generation sequencing exome and genome data, polygenic risk scores and mutation load analyzes to dissect complex traits.
The setting may offer opportunities to participate in an international consortium.
Questions about content?
Contact Sonia Van Dooren on +32 (0)2 477 64 79 or Sonia.VanDooren@uzbrussel.be