Genetics of Congenital Heart Disease
Family-based studies for the identification of genetic causes for congenital heart disease
Gene regulatory networks in cardiac development ; adapted from Olson et al., Science, 2006, 313(5795):1922-7
During the last few years, several molecular mechanisms that play a role in the morphologic and functional development of the heart have been elucidated by using model organisms. Changes in specific genes that control the cardiovascular developmental programme can lead to the emergence of congenital heart defects (CHD) in humans. Besides larger chromosomal aberrations, point mutations were identified in single genes that follow a monogenic inheritance. However, in patients with congenital heart defects the inheritance pattern is rarely monogenic, but mostly complex. Little is as yet known about the genetic factors that play a role in the aetiology of this multifactorial disease.
In order to systematically examine the genetic causes of congenital heart defects (CHD), patients with familial occurrence of CHDs are very valuable, since there is a larger genetic component in these patients than in those with CHDs that occur sporadically. The Cooperation with the Competence Network for Congenital Heart defects (KN-AHF), sponsored by the Federal Ministry of Education and Research (BMBF) provides a unique opportunity to work with large patient collectives. Only a comprehensive database, which does not yet exist, provides the opportunity to recruit sufficiently large patient sample sizes.
Mutation analyses of already known disease-causing genes and new candidate genes for CHDs are to be carried out.
This work is supported by the Federal Ministry of Education and Research (BMBF) Förderkennzeichen 01GI0601 KN-AHF
People involved in the work:
Sabine Klaassen (Postdoc), Project leader
Adelheid Schalinski (MPhil.)
For more information contact:
klaassen@mdc-berlin.de