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Genomics of congenital heart disease programme announced

23 October 2008   |   By Dr Philippa Brice   |   News story

The US National Heart, Lung and Blood Institute has announced $25 million funding for a six-year program to fund collaborative genomics studies between different centres, focusing primarily on the genetic causes of congenital heart disease.

The NHLBI Pediatric Cardiac Genomics Consortium is to be a collaborative venture with the Institute of Circulatory and Respiratory Health (ICRH) of the Canadian Institutes of Health Research, and is calling for applications from potential researchers to to conduct research that can lead “to a comprehensive understanding of congenital heart disease” (see GenomeWeb news article). The purpose of this consortium, which will form part of a larger programme of translational research in pediatric cardiovascular disease, is to perform clinical and translational research on the genetic causes of congenital heart disease, and on genetic contributions to outcome in individuals with congenital heart disease. 

It is intended that this collaborative approach will make it feasible to recruit sufficient patients for large-scale studies; although collectively cardiac defects are the most common type of birth defect, each individual form of congenital heart disease tends to be very rare. Applicants to form one of up to six research centres will have to propose investigation of the genetics and genomics of one or more human cardiac malformations; they may focus on different aspects as set out in the announcement:

  • Identification of genetic causes and modifiers of common human congenital cardiac malformations, myopathies, and rhythm disturbances.
  • Identification of genetic causes and modifiers of anatomically related malformations, such as left-sided obstructions. 
  • Association of genetic variants of components of specific regulatory or signal transduction pathways with cardiovascular malformations or syndromes.
  • Identification of genetic variations that influence clinical outcomes in individuals with congenital heart disease, such as survival, ventricular function, arrhythmias, or neurocognitive functioning.
  • Pharmacogenetics and pharmacogenomics in congenital heart disease.
  • Epigenetic regulation of candidate genes for congenital heart disease.
  • The influence of gene-environment interactions on congenital heart disease.

Of note, the PHG Foundation’s cardiac genetics project is reviewing current NHS provision for patients with inherited forms of cardiac disease in the UK, and working with stakeholders to develop recommendations for improving cardiac genetics care.

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