Clinical Genetics

Cardiogenetics: Elucidating the basis and molecular pathology of genetic heart disease

The aim of the Cardiogenomics programme in Maastricht is to exploit both the extensive patient cohort and novel genomics technologies to identify and functionally characterize genetic defects predominantly in inherited cardiomyopathies and heart failure. 

Whole exome or whole genome sequencing can identify the genetic cause in patients, but these new technologies generate massive amounts of data on genetic variants in genes with known and unknown functions, involved in hereditary (mitochondrial) cardiomyopathies, cardiac arrhythmias and heart failure. Known key pathological mechanisms are related to defects in structural proteins, nuclear proteins, intermediate filaments and other cyoskeletal proteins, mitochondrial energy production and ion channels, but new concepts and new genes are rapidly being identified.

The challenge for the years to come is to convert data on new genes, gene defects and human genome variation in patients with genetic cardiovascular disease into functionally relevant information on the diverse pathophysiological mechanisms and clinical manifestations. As bioinformatics approaches can only provide partial solutions, a functional analysis pipeline, based on primary (fibroblast) cell cultures, induced Pluripotent Stem cells (iPS) or simple model organisms, is truly essential.

Team leader

Prof. Bert Smeets
E: bert.smeets@maastrichtuniversity.nl

Research group

Arthur van den Wijngaard, PhD; Jos Broers, PhD; Ingrid Krapels, PhD, MD in close collaboration with the cardiologists prof. S. Heymans, PhD and prof. P. Volders, PhD

School

CARIM