The Institute of Genetic and Biomedical Research (IRGB), formerly Institute of Neurogenetics and Neuropharmacology (INN) consists of the main Institute in Sardinia and a research unit in Milan.
At the time being, IRGB’s leading activity in the main Institute is in Genetics and Molecular Biology. IRGB’s scientific interests focus primarily on monogenetic and polygenetic studies in a population as the Sardinian one, that is genetically homogeneous, and can be assembled in four wide ranges in research:
- ProgeNIA project, a longitudinal study of a large cohort of Sardinian subjects:
- Study on quantitative traits of specific aspects of aging: mainly Cardiovascular component and Personality component
- Study on about 300 quantitative traits and phenotypes of general biomedical interest
- Complex diseases:
- Identification of the genes involved in pathogenesis of Type I Diabetes (TD1)
- Identification of the genes involved in pathogenesis of Multiple Sclerosis (MS)
- Next generation sequencing in Sardinian population for the identification of rare variants in MS and TD1
- Research on genes involved in breast cancer
- Identification of the genes involved in the pathogenesis of the most common autoimmune diseases in Sardinia.
- Functional studies on immunologic diseases.
- Thalassemia, the most frequent monogenic disease in Sardinia:
- Genotype - phenotype relationship studies.
- Identification of beta- thalassemia modifier genes.
- Definition of thalassemia with intact globin gene.
- Gene therapy.
- Transcriptional regulation of globin genes.
- Genes involved in Mesenchimal Staminal cells differentiation.
- Monogenic diseases:
- Functional on the protein CRLF1 responsible for Crisponi’s Syndrom
- Functional studies on the protein AIRE responsible for autoimmune poliendocrinopathy type I (APECED)
- Functional studies on FOXL2 gene, crucial for eye and ovary development
- Identification of the genes involved in overgrowth and dismorphic syndromes
Long term research personnel belonging to the main Institute are 29:
- 1 Senior Researcher
- 16 Researchers
- 8 Research Technicians
- 4 Administrative Assistant
To these we must add the temporary employees and many volunteers that permanently cooperate in the Institute’s Research activity. This is a vast group of people that have been sustaining the long term personnel for years allowing a steady development in the scientific field.