Where Ideas grow
Genetic Diversity



The group establishes a bridge between human population and clinical genetics. We study drift, migration, expansion, bottleneck and selection, which model the genetic diversity. This evolutionary framework is applied to identify candidate genes/variants conferring susceptibility to diseases. Our work involves collaborations with anthropologists, statisticians, bioinformaticians and clinicians.



We are surveying genome-wide chips and whole exome/genome sequences in population samples and in case-control cohorts. These allow unbiased overall evaluations of global human evolution and of candidate genes contributing to complex diseases, respectively. We are particularly interested in investigating how ancestry leads to differential susceptibility to complex diseases. Our current disease models are dengue fever and gastric cancer, and in both African ancestry seems to play a protective role against the worse phenotypes.

We have a long track-record in the study of proteolysis related genes, especially in the context of a common European Mendelian disease, alpha1-antitrypsin deficiency. In addition, we are enlarging our focus in other lung disorders, including Chronic Obstructive Pulmonary Diseases and lung cancer, by applying genomic and proteomic approaches. We are also exploring the involvement of these genes in reproductive biology and in immune response against pathogens, using the seminal hyperviscosity phenotype in male infertility as a model.

We are internationally recognised by our work in the phylogenetic characterisation of worldwide mitochondrial DNA diversity. As mitochondria play major roles in many life-sustaining functions, they have been implicated in many complex phenotypes, including cancer. We have shown that a proper phylogenetic contextualisation is essential to disentangle between neutral and pathologic variants, and we are currently using this information in researching the cross-talk between the mitochondrial and nuclear genomes.

Evolutionary based studies: allele frequency map (left upper corner); tridimensional models of a protein (in the middle); phylogenetic tree (right upper corner); analysis of population structure (down).