Cancer progression and metastatization is a complex process in which genetic alterations were initially demonstrated to assume a significant role; however, more recent evidence point to tumor microenvironment (TME) and host's immune system as additional players in cancer progression.

Molecular-genetics testing cooperate in defining the more appropriate and effective diagnostic and therapeutic approaches for the managements of cancer patients. Molecular diagnostics project carried out thanks to an agreement with the University Hospital (AOU) of Sassari.

Personalized approaches for diagnosis and treatment of cancer. The Unit of Cancer Genetics at IRGB-CNR of Sassari is fully focused on precision medicine in oncological field, mostly based on translational research and, to a lesser extent, on basic research. In clinical practice, genomic and epigenomic profiling actually represents a crucial tool for the molecular classification of cancer patients [...]

Finding longevity genes is only one of many goals for gerontologists. An equally important mission is unravelling the genetic processes involved in age-related traits and diseases. IRGB and NIA are focusing their attention on the Mediterranean island of Sardinia. Why? We quote directly from the rationale and background for the initiation of the study in 2001, which also apply to follow-up studies in the course of the Project.

The Sardinian Transcriptome Project The interpretation of GWAS is extremely challenging since most candidate loci fall in non-coding regions and are difficult to interpret. Given the important role of regulatory variation in shaping phenotypic complexity, expression Quantitative Trait Loci (eQTLs) have been proposed as informative intermediate phenotypes between genomic sequence variation and human [...]

The project aims to define the immunological traits whose variation impacts the predisposition to complex diseases and immunosenescence. This is being accomplished by genome wide association studies using ultra-high definition polychromatic flow cytometry of circulating cells The project aims to define the immunological traits whose variation impacts the predisposition to complex diseases and immunosenescence.

The Sardinian Genome Project for medical and human evolution discovery Next generation sequencing has revolutionized the resolution of genetic analyses. Since 2010, the IRGB institute has exploited this advanced technology with a lowpass sequencing approach aiming at the genetic characterization of the Sardinian population. We sequenced about 3,500 whole genomes discovering more [...]

The project aims to define the immunological traits whose variation impacts the predisposition to complex diseases and immunosenescence. This is being accomplished by genome wide association studies using ultra-high definition polychromatic flow cytometry of circulating cells The project aims to define the immunological traits whose variation impacts the predisposition to complex diseases and immunosenescence.

Induced pluripotent stem cells for disease modelling and regenerative medicine. Autosomal recessive osteopetrosis is a human bone disease mainly caused by TCIRG1 gene mutations that prevent osteoclasts resorbing activity, recapitulated by the oc/oc mouse model. Bone marrow transplantation is the only available treatment, limited by the need for a matched donor. The use [...]