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General Information


 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.

 

 

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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.

 

 

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