The main research focus of Genes, Populations and Diseases group is the study of human genetic variation associated with both normal and disease phenotypes. Focusing mainly in the Portuguese population the group activity covers important topics in human genetics, including the genetic basis of complex traits (such as obesity and longevity) and hematological conditions (including red cell enzyme deficiencies, hemoglobinopathies and venous thrombotic disorders). Population genetic studies using Y-chromosome and autosomal variants and epigenetic studies based on DNA methylation analysis are also important goals in this cluster.
