Genomic variation in human populations and complex diseases

Definition: Analysis of the genomic variability in human populations, with particular attention to the study of selective and evolutionary processes responsible for the present human genetic/genomic structure, the geographical distributions of genetic variants, and their significance for complex diseases and pharmacogenetic / pharmacogenomic applications.

Innovative issues: Advances in high-throughput molecular technologies allow to better characterize interindividual differences to study not only evolutionary history of modern humans, but also microgeographic differences, in the attempt to identify sets of genetic markers with the highest informativity. Thus, our studies will allow to better plan case-control association studies avoiding population stratification problems, with potential implications also in the field of personalized medicine.

Added value: Population genetics will be applied to the concept of genomics of human populations, covering also genomic and epigenomic variability, DNA copy number variation (CNV), and combining information with miRNA and gene profile diversity, providing new insights into the fields of complex diseases and pharmagenomics.

Head of Unit: Giuseppe Matullo
Phone +39 0116709542
Fax. +39 0112365601
Download Giuseppe Matullo's CV

Research Group:
Simonetta Guarrera, MPH, Senior Researcher -
Alessandra Allione, PhD, Senior Researcher -
Cornelia di Gaetano, PhD, Research Technician Senior -
Barbara Pardini, PhD, Junior Post-doc -
Alessia Russo, PhD, Junior Post-doc-
Giovanni Fiorito, PhD Student -
Elisabetta Casalone, PhD Student -
Clara Viberti, PhD Student -
Serena Aneli, PhD Student -

Ongoing Projects:
1. Recontruction of the genomic structure of Italian populations from genome-wide data
2. Identification and resequencing of genes exhibiting signals of regional adaptation in human populations.
3. Genetic, genomic and epigenomic analyses in cardiovascular prospective and case-control studies in relation to lifestyle and biochemical factors.
4. DNA repair genotype-phenotype correlation analysis and impact on cancer risk
5. DNA repair gene expression profiles and polymorphisms in cancer patients: chemotherapy responsiveness and prognostic factors.
6. A genome-wide association study on malignant pleural mesothelioma
7. Development of methods for the analysis of gene-gene and gene-environment interaction in complex diseases

2015 Publications

2014 Publications

2013 Publications

2012 Publications

2011 Publications