Population Genetics in Biomedicine (GenPoB)
Our group addresses the study of human genetics in biomedicine from a multi-disciplinary perspective, combining the effort of researchers with different basic and applied training, such as medicine, biology, or mathematics. The genetics of human populations is the common link to all research projects in GenPoB. From this perspective, the group has collaborated and collaborates on projects ranging from clinical medicine, forensic genetics or molecular anthropology. Some of the current research lines related to the group are mentioned below.
Genetics of human populations and molecular anthropology
Study of uniparental markers; including the mitochondrial genome (mtDNA) and the Y chromosome; with special interest in phylogeny, phylogeography, instability in tumorigenesis, mitochondrial disorders
SNP genotyping using high performance genotyping platforms (eg GWAS)
Studies based on ultra-sequencing (“Next Generation Sequencing” or NGS), ranging from own sequencing projects to the bioinformatic analysis of large public databases (eg 1000Genomas)
Study of the population sub-structure in human populations using different mathematical simulation techniques
Study of genomic ancestry in human populations
Studies of genetic-forensic interpretation of haplotypic uniparental markers (mitochondrial and Y chromosome DNA) and autosomal (STRs, SNPs, AIMs)
Development of statistical methods to solve problems related to the understanding of the genetic / genomic variability distribution in human populations, in medical genetics and forensic genetics
Collaborations in the study of various Mendelian diseases: Wilson’s disease, childhood hyperinsulinism, congenital ichthyosis, etc.
Association studies (case-control) in various complex multi-factorial diseases such as breast cancer, sepsis, infectious diseases (meningococcemia, influenza …), etc.
During these last years, our group has been collaborating intensely in the study of infectious diseases in pediatric age, where there are currently a large number of genomic, vaccine, transcriptomic, methylomic research projects, etc. This research is being developed in close collaboration with Federico Martinón Torres.