Molecular epidemiology of congenital heart disease in São Miguel Island (Azores)
- NomeRenato Hélder Morais Pires
- Entidade de acolhimentoUGPM – Unidade de Genética e Patologia Moleculares do Hospital Divino Espirito Santo
The main research goal of this post-doctoral project is to investigate, through the use of molecular techniques, the genetic factors that are presumed to play a role in the development of the CHD, mainly in the Azorean island of São Miguel. The specific objectives are as follows:
- To update the CHD database located at HDESPD, EPE, including the collection of all information of each patient;
- To investigate candidate genes associated with CHD, using different techniques of genotyping;
- To study structural genetic variants in heart defects, such as 22q11.2 deletion and microduplication;
- To establish the genotype-phenotype correlations in CHD sub-phenotypes.