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CardioGeNet at a glance

Project full title
Definition of a Genetic Network Involved in Congenital Heart Disease.

Pathologies
Congenital heart disease (CHD) represents the most common birth developmental defect of the heart. Previous estimates of approx 1:100 live births are now considered underestimations, the currently estimated prevalence being approx 5% of newborns. It is therefore increasingly important to identify the genetic causes of CHD and understand its pathogenesis. Several genes involved in CHD encode transcription factors although the gene cascade that is perturbed in and causes CHD is still largely unknown. Further, it is clear that the underlying causes of CHD may also carry consequences for other organs and systems. Thus, a better knowledge of the pathogenesis of congenital heart disease would be necessary to predict, and possibly prevent, associated health problems. > [Pages Cardiac Cell Lineage and Congenital Heart Disease + Transcription Factors and CHD]

Project mission
The CardioGeNet consortium aims at the identification of a network of genes controlling the development of the heart, and thus involved in congenital heart disease (CHD). The entry point for the interrogation and perturbation of cardiogenic gene networks is the transcription factor Tbx1, the major gene responsible of 22q11.2 deletion syndrome, or DiGeorge syndrome, the most common genetic cause of CHD after Down syndrome. The project has three specific aims: 1) to define the roles and interactions of T-box transcription factors in cardiac outflow tract (OFT) development, 2) to define gene networks perturbed in OFT developmental defects, and 3) to integrate gene expression, cell lineage distribution and phenotype data. The ultimate goal of the CardioGeNet consortium is to provide the clinical and basic science research communities with a validated list of interconnected genes required for normal heart development and that should be included on screens for mutational analysis of CHD patients. > [Pages Project + Aims + Impact]

Partners
The CardioGeNet consortium brings together six European scientists (the Partners) strongly committed to research in congenital heart disease (CHD) and with a leading role in the field of genetics of cardiovascular development in animal models and humans. The team is assembled in a cohesive manner and in a way that expertise, technologies and access to a unique set of mouse mutants as well as human samples, can work together and address an important human disease.
The team is positioned between basic science and human disease research since all the participants have experience in both human genetics and cardiovascular development and have discovered or characterized human disease genes. > [Page Partners]

Funding
CardioGeNet is a Collaborative Project funded by the European Commission within its Seventh Framework Programme Priority under the thematic area “Congenital pathologies affecting the heart” (FP7-HEALTH-2007-B). Contract number and title: 223463 – Definition of a Genetic Network Involved in Congenital Heart Disease. Duration: 4 years.