ABOUT

We aim at understanding the origin, evolution and consequences of genetic diversity, using a variety of model systems and approaches under the perspective of population genetics theory.

The development of tools for the identification of variants and their interactions contributing to the aetiology of, or the susceptibility to, genetic or infectious diseases is a main theme of research, in order to develop efficient screenings and diagnostics, and to identify individuals at high risk of developing a disease, improving genetic counselling and treatment, including the study of the genetic variation in the response to xenobiotics and pharmacogenetics.

The role of coding and non-coding sequences in gene expression regulation and the impact of structural genomic variation on fertility and disease susceptibility, is investigated by two strategic approaches: an evo-devo line based on the evolutionary comparison of specific genomic regions and their expression patterns in ontogeny, and genome wide methods.

Besides health an applied line of research is related to forensics and quality control issues through the development of methods, techniques, and the design of exercises, recommendations and guidelines.

The research strategy described for humans is also applied to the history, conservation and management of domesticates and laboratory animals, identification and diagnostic tools and food quality.

The Group is also devoted to the mathematical modelling of generalized kinship relations, automated DNA sequence analyses and to the history, migration and substructure of metapopulations.

RESEARCH

CAG instability in Machado-Joseph disease

SCA2 repeats and ALS risk

Erythrocyte enzymes and malaria resistance

Hospital dispersion of A. fumigatus; mutations in antifungals resistance

Individual cancer risks and drug dosage

Epigenetic and genetic 2^nd hits in gastric cancer

Pathogenic mutations origins and mechanisms

Epistasis in respiratory and Golgi complexes

Selection at  mtDNA secondary structure and deletions associated with non-B conformations

Evolution and diversification of gene families

Overlapping genes: evolution of splicing and polyA signals

Software for analysis and classification of mtDNAs

Assessment of ancestry and interethnic admixture

Human fertility increases with marital radius

Y chr.  genes essential for spermiogenesis

Transcriptional changes in a Turner mouse model; clustering of inactivation escapees

Derivation of the sets of pedigrees with same IBD and generalization to X-chr.

PCR method and software for species and breed identification in food or degraded samples

Neandertal X-chr. haplotype in all non-African populations

History of the Roma and pathogenic mutational spectrum