My current research is mainly focused on the study of the influence of genetic factors on common human diseases from an evolutionary, genetic epidemiological, epigenetic and functional point of view.

Specifically, I am interested on complex loci including mitochondrial DNA copy number, nuclear CNVs and non-recombining haplogroups. I have also published a number of studies on specific human diseases.

The analytical approaches used include association studies (and GWAS), causal analyses through Mendelian Randomisation, Bioinformatics, Population Genetics and whole-genome sequence analysis in consanguineous families.

Previous work includes linkage disequilibrium analyses, developing and patenting a new method for dinucleotide repeat genotyping, study of the human chromosome Y in the context of complex traits and statistical genetic analyses of two candidate genomic regions (the IGF2-INS-TH region and the ACE-GH cluster) in relation to metabolic and cardiovascular risk traits. My experimental laboratory work included specific SNPs, microsatellites and method developments.