About Us

The IRGB was born from the legacy of the Institute of Research on Thalassaemias and Mediterranean Anemias (IRTAM), founded in Cagliari in the late 1970s to address the haematological diseases prevalent in the region.

In 2001, the reorganization of the National Research Council (CNR) led to the establishment of the Institute of Neurogenetics and Neuropharmacology (INN) in Monserrato, integrating expertise in neuropharmacology and molecular genetics.

In 2010, the Institute adopted its current name, IRGB (Institute for Genetic and Biomedical Research), expanding its mission to genomics and translational medicine, and establishing a new site in Milan with personnel from the Institute of Biomedical Technologies (ITB).

Between 2013 and 2015, the Institute reached its current structure with the integration of the Institute of Population Genetics (IGP) in Sassari, strengthening its focus on multifactorial diseases, and the establishment of the Lanusei site, active since 2001 within the SardiNIA project and specialized in population genetics.

Today, IRGB is a multi-site and multidisciplinary institute that integrates molecular genetics, genomics, and epidemiology within a systemic approach to the study of human diseases.

As of January 31, 2026, the permanent CNR staff consists of 99 employees, distributed as follows: 10 Research Directors, 22 Senior Researchers, 27 Researchers, 4 Senior Technologists, 9 Technologists, 15 Technical staff (14 technical collaborators and 1 technical operator), and 12 administrative staff (4 Officers, 7 collaborators, and 1 Operator).

The Institute conducts research in the biomedical sciences through an integrated approach that combines genetics, molecular biology, bioinformatics, and translational medicine, aiming to understand the biological mechanisms of diseases and turn this knowledge into diagnostic and therapeutic applications.

The main research areas include:

• molecular basis of monogenic hereditary diseases and rare disorders;
• genetics of polygenic and multifactorial diseases, with particular emphasis on cardiovascular diseases;
• genetic and epidemiological studies of the Sardinian population;
• thalassemias, hematological disorders, and immunodeficiencies;
• molecular oncology, genomic stability, and epigenetics;
• regenerative medicine and stem cell-based technologies;
• role of sarcomeric proteins in cardiac and muscle diseases;
• development of innovative antibiotics;
• bioinformatics and computational biology for multi-omics data analysis;
• molecular modeling and drug discovery for the rational in silico design of new therapeutic molecules;
• precision medicine in oncology for personalized diagnostic and therapeutic approaches.

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.