Molecular epidemiology of congenital heart disease in São Miguel Island (Azores)

  • Estado
  • Nome
    Renato Hélder Morais Pires
  • Entidade de acolhimento
    UGPM – 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:

  1. To update the CHD database located at HDESPD, EPE, including the collection of all information of each patient;
  2. To investigate candidate genes associated with CHD, using different techniques of genotyping;
  3. To study structural genetic variants in heart defects, such as 22q11.2 deletion and microduplication;
  4. To establish the genotype-phenotype correlations in CHD sub-phenotypes.