The National Research Council (CNR) Institute for Genetic and Biomedical Research (IRGB) has the goal of understanding the causes and the mechanisms underlying diseases with a genetic component, both with simple or complex modes of inheritance.
The IRGB has a long-standing experience in elucidating genetic and epigenetic factors at the base of common diseases. The institute’s primary efforts are carried out through a number of projects performed by different groups operating in different sites in Sardinia (Monserrato, Lanusei, Sassari and Pula) and in Milan.
Among the projects being performed in Sardinia, five (the ProgeNIA/SardiNIA Study; the Autoimmunity Study; the Sardinian Genome Project, the Sardinian Transcriptome Project and the Immune Deployment Project), are highlighted here.
These projects boil down to the analysis of the consequences of genetic variation – up to the sequence of the whole genome – on phenotypes of biomedical relevance, with subsequent follow-up targeted functional studies both in vitro and in vivo in appropriate animal models. Particular emphasis is given to analysis of the structure of the study populations and to the joint analysis of discrete traits (diseases) and continuous quantitative traits (or endophenotypes) related to the diseases of primary interest and examined in large cohorts of thousands of individuals.
The Milan unit of the IRGB pursues two main topics: immunological and cardiovascular diseases. The major approaches are HT DNA sequencing in the setting of rare diseases, stem cells as in vitro models, including iPS cells generation, signal transduction, epigenetics and non-coding RNAs analysis in the molecular pathophysiology of immunological and cardiovascular diseases. The unit is located within the campus of the Humanitas Research Hospital with which it shares a number of state of the art facilities.
The main Institute of Genetics and Biomedical Research (IRGB) of the CNR has three locations in Sardinia. The four 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.
The Cagliari is the main site of the Institute and it is spread over 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. There is also a team of statisticians to perform all the statistical analyses of our Institute.
In the Lanusei we run the SardiNIA project, a longitudinal study of 6000 volunteers enrolled from 4 nearby villages. The personnel include a recruitment coordinator who contacts the participants, 6 physicians and 4 nurses who perform medical examinations and take samples, 14 biologists who conduct genetic and functional analysis and one bioinformatician who manages the data. This site includes a medical clinic for the visits and sample collection, and five laboratories with more than 14 locations and large instruments (including 2 Affymetrix 7G GeneChip systems and 2 FACS Excalibur Canto 2 Becton Dickinson) where we carry out: blood tests, extraction DNA and RNA, genotyping, cell culture and cytofluorometry.
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 Milan Unit originates from the activity performed by some researchers in the framework of the Human Genome Project coordinated in the ’90s by Prof. Renato Dulbecco. In the last few years, the research activity 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.