About Us

Sardinian IRGB’s scientific interests focus primarily on monogenetic and polygenetic studies and can be assembled in four wide ranges in research:

A. ProgeNIA project, a longitudinal study of a large cohort of Sardinian subjects
1) Study on quantitative traits of specific aspects of aging: mainly Cardiovascular component and Personality component
2) Study on about 300 quantitative traits and phenotypes of general biomedical interest

B. Complex diseases
1) Identification of the genes involved in pathogenesis of Type I Diabetes (TD1)
2) Identification of the genes involved in pathogenesis of Multiple Sclerosis (MS)
3) Next generation sequencing in Sardinian population for the identification of rare variants in MS and TD1
5) Research on genes involved in breast cancer.
6) Identification of the genes involved in the pathogenesis of the most common autoimmune diseases in Sardinia.
7) Functional studies on immunologic diseases.

C. Thalassemia, the most frequent monogenic disease in Sardinia
1) Genotype – phenotype relationship studies.
2) Identification of beta- thalassemia modifier genes.
3) Definition of thalassemia with intact globin gene.
4) Gene therapy.
5) Transcriptional regulation of globin genes.
6) Genes involved in Mesenchimal Staminal cells differentiation.

D. Monogenic diseases
1) Functional on the protein CRLF1 responsible for Crisponi’s Syndrom
2) Functional studies on the protein AIRE responsible for autoimmune poliendocrinopathy type I (APECED).
3) Functional studies on FOXL2 gene, crucial for eye and ovary development.
4) Identification of the genes involved in overgrowth and dismorphic syndromes.

In the last few years, the research activity of the Milan section has developed along the genomics field with particular attention to the applications to human health. Therefore the Milan activity can be characterized as Translational Genomics.
The following themes are pursued:
1) Genetics of monogenic diseases, focussing on the pathologies of immune, cardiac and bone systems, as well as on some developmental syndromes such as Cornelia de Lange.
2) Genetics of polygenic diseases, with focus on cardiac pathologies.
3) Regenerative medicine. Animal models of bone and heart diseases are used to test novel approaches of cell therapy. In addition, the technologies needed to use induced pluripotent stem cells (iPSC) have been set up.
4) Oncology, genome stability and epigenetics that play a fundamental role both in cell differentiation and tumor pathogenesis.
5) New antibiotics. This research has recently been implemented, thanks to the collaboration with the private sector, in a joint project sponsored by the Regione Lombardia.
6) Role of sarcomeric proteins in cardiac and skeletal muscle function and disease such as dilated and hypertrophic cardiomyopathy, limb girdle muscular dystrophy, and nemaline myopathy.
7) Bioinformatics to integrate and support the study of genes and proteins involved in pathologic processes.

Precision medicine in Oncology: 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 in order to identify cases that might be responsive or resistant to the different innovative biological treatments (targeted therapy and immune-oncology). Usually, our group is committed to assess the genetic and molecular signatures at both DNA and RNA levels, generating data that firstly have an immediate clinical application and then contribute to the creation of large databases. These latter are useful for correlation between molecular and clinical or pathological features. Moreover, efforts are required to generate new bioinformatic tools for the most appropriate management of all produced information as well as to increase the use of multiparametric criteria toward the development of new algorithms for clinical classification during all phases of the disease progression.

In past years, the Unit of Cancer Genetics at CNR of Sassari has participated into the generation of the Cancer Registry of the Province of Sassari – which has now become the Cancer Registry of the Province of Sassari and Nuoro (thus, covering the Central-Northern Sardinia). It includes all cases diagnosed in the period between 1992 and 2016 (usually, registration of cases requires 4-5 years of work) and represents a crucial tool for evaluating not only the incidence and prevalence of cancers but also the rates of survival for patients in each specific geographical area. Such a Cancer Registry has been accredited by the Italian Cancer Registries Association (AIRTUM) and is officially recognized by the International Agency for Research on Cancer (IARC).

In addition to a tight collaboration with nearly all oncological institutions throughout the island – including an active participation into many multidisciplinary teams within the Sardinian health system (teams on breast cancer and melanoma were already officially registered), a fruitful interaction has been established with many health and research institutions across Italy (Institutes for Treatment and Research – so called IRCSS, scientific public and private Foundations, Health Units and Hospitals, Universities). Since, a large fraction of our research work is centered on studies on melanoma and non-melanoma skin cancers, the principal collaboration is within the Italian Melanoma Intergroup network.

Our Unit acts as a central laboratory for molecular diagnosis in oncology in Sardinia and, during past years, has analyzed thousands of biological samples from cancer patients within the Sardinian population, carrying out correlation studies on several malignancies aimed at identifying predictive and/or prognostic disease-associated markers for the improvement of the patients’ management. In many series, we observed differences in the spectrum and distribution of genetic and molecular alterations within the Sardinian population. In recent years, we have also introduced analyzes on circulating tumor DNA (so called liquid biopsy) in order to both investigate tumor progression at any disease change (in a longitudinal way) and better monitor patients during treatments. Finally, our group is participating to genomic and molecular profiling in several clinical trials and studies (including a 7-year research project funded by AIRC); these activities are aimed at identifying predictive markers of response or resistance to innovative therapy protocols, especially for immunotherapy (where biomarkers are still missing).

The research activity is focused on the characterization of genetic and molecular factors involved in the susceptibility and pathogenesis of different types of solid neoplasms, more frequent – such as those in breast, ovary, prostate, lung, gastrointestinal sites, liver and biliary tract cancer, pancreas (the risk of developing these cancers in the course of life is high in Western countries) – and less frequent – such as melanoma (which has become a notable health and social problem due to the significant increase in incidence in recent years, especially among young people), GIST, mesothelioma, glioblastoma. This approach would allow a more accurate definition of the different molecular subtypes of cancer patients and a better characterization of the inter- and intra-tumor heterogeneity of each malignancy. A correct classification of cancer patients, on the basis of the personal “molecular pattern”, is in fact considered indispensable for planning the patient’s therapeutic strategy, in order to obtain an increasingly positive risk / benefit balance.

The main Institute of Genetics and Biomedical Research (IRGB) of the CNR has three locations in Sardinia and one in Milan. The three Sardinian sites are located in Cagliari, Lanusei, Pula and Sassari have been built based on the main research activities and future plans of the Institute and are organized to ensure an efficient and integrated distribution of the work.

Cagliari is the main site of the Institute. Located within the University of Cagliari Campus (Cittadella Universitaria di Monserrato), the building covers an area of ~1000 mq and includes the administration of the Institite and four large laboratories well equipped to carry out molecular and cell biology studies, in addition to a mouse facility co-hosted with the University. The research team includes 24 researchers and 10 technicians who carry out in-vivo, ex-vivo and in vitro studies for identification of mechanisms underlying monogenic and complex disorders, with a special focus on hemoglobinopathies and autoimmune diseases. Several cutting-edge laboratory techniques are in place, such as genome editing through CRISPR, Hi-C, and generation of knock-in/knock-out mice. Finally, the team includes a group of six statisticians and bioinformaticians who carry out computational analyses for all the ongoing projects.

The Lanusei facility originates from the ProgeNIA project, launched in 2001 in collaboration with the National Institute on Aging (NIA)/National Institute of Health (NIH) – Baltimore, USA, which focuses on the epidemiology and genetics of certain aging-related conditions in the Sardinian population.

The research unit consists of two adjacent buildings.
The main building is spread over three levels. The ground floor houses the medical offices, while the first floor houses the laboratories, including a large open space dedicated to routine experiments and RNA and DNA isolation; two BLS2 rooms for performing cell line assays and cytometric analyses; and a laboratory for biochemical assays on biological samples. The second building houses the genomics laboratory, divided into two functional macro-areas dedicated to the purification of nucleic acids and the characterization of genetic variants using high-throughput genotyping technologies. For data storage and processing, the facility is equipped with a high-capacity computing infrastructure. The environment is optimized for parallel processing and rapid file access, ensuring scalability, workflow traceability, and secure management of biomedical datasets.

The ProgeNIA project is promoted through scientific communication and dissemination activities, disseminated through social media pages and aimed primarily at ensuring ongoing dialogue with the public, in full accordance with the CNR’s institutional mission.

CNR staff in service as of January 31, 2026, include three senior researchers, one researcher, one senior technologist, four technologists, one technical assistant, and one administrative officer. There are also three nurses, five physicians, one IT technician, and one person responsible for recruiting participants to the ProgeNIA project.

The third site is located in Pula in the a Biopark named Sardegna Ricerche where, in close collaboration with the CRS4 (Center for Advanced Studies, Research and Development in Sardinia), we have set up a large infrastructure for massively parallel sequencing, taking also advantage of an existing major computing facility.

The sequencing laboratory has 3 new Illumina-HighSeq 2000 sequencers, each able to produce up to 300 Gb of raw sequencing data per run and 2 Illumina- Genome Analyzer GA IIx sequencers, able to produced more than 80 Gb of raw data sequencing per run. Attached to the high throughput sequencing lab there is a newly re-tooled multi-teraflop computing centre of CRS4 (currently, 40 Teraflops and a storage capacity of 0.75 PetaBytes) that provides the computational infrastructure necessary to utilize and store the data.

The IRGB Sassari facility is dedicated to basic and translational research in precision medicine applied to medical oncology. This activity focuses on the molecular genetic study of solid tumors and the correlation of molecular data with clinical and pathological parameters, aiming to improve diagnosis, prognosis, and therapeutic response. The facility is located within the CNR Research Area in Sassari, which hosts a total of six branches of various CNR institutes, and collaborates closely with universities, healthcare facilities, and regional and national research centers. The first floor of Building G houses laboratories dedicated to NGS sequencing, cell biology and cytogenetics, molecular biology, liquid biopsy, and proteomics, as well as spaces for microscopy, teaching activities, staff offices, and a meeting room.

The facility conducts molecular diagnostics in oncology under an agreement with the University Hospital of Sassari, using samples from oncology facilities in northern Sardinia.

CNR staff as of January 31, 2026 includes: 5 senior researchers, 6 researchers, 1 technologist, 3 technical collaborators, and 2 administrative staff.

The Milan Unit, established more recently, is made up of a group of researchers whose main interest is centred on the molecular mechanisms of cardiovascular diseases, aging and the pathologies of the bone and of the hemato-lymphoid system, including rare genetic diseases.

The Unit operates as a decentralized headquarters of the Institute for Genetic and Biomedical Research (IRGB-CNR), carrying out research in cardiovascular diseases, aging and the pathologies of the bone and of the hemato-lymphoid system, including rare genetic diseases., contributing to the scientific mission of the institute.
The activities are distributed at centers of excellence such as the Humanitas Research Hospital IRCCS (via Manzoni 56, Rozzano, https://www.humanitas-research.com/), the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET, Via Olgettina 60, Milan, https://research.hsr.it/en/institutes/san-raffaele-telethon-institute-for-gene-therapy.html) and the Telethon Institute of Genetics and Medicine (TIGEM, Via Campi Flegrei 34, Pozzuoli, https://www.tigem.it/). At the host institutes, CNR staff have access to all available facilities, equipped with cutting-edge instruments and technologies.
The site integrates basic and translational research in close collaboration with the clinic.
Major areas of study include rare genetic diseases, cardiovascular diseases, regenerative medicine, and oncology.

CNR staff in service as of 31 January 2026 at the headquarters: 5 research managers; 6 first researchers; 10 researchers; 1 technologist; 3 technical collaborators; 1 administration official; 1 administration operator.

The Unit is mainly located within the campus of Humanitas Research Hospital and has 20 permanent researchers and about 25 PhD students, post-doctoral fellows and contractors from public and private organizations.