The Department of Rare Diseases focuses on diseases that have a prevalence that is no higher than one case in 2000 in the general population. The World Health Organisation estimates that there are approximately 7000 rare diseases, most of which are genetic.
These are very heterogeneous diseases that involve practically all areas of medicine. The institute’s activities take shape concretely thanks to multidisciplinary projects that range from basic research to epidemiological research and clinical research, accompanied by a strong commitment to disseminating information and training young researchers.
The rare diseases that the institute focuses on include: Thrombotic Microangiopathies (SEU and PTT), Membranoproliferative Glomerulonephritis, Steroid-Resistant Nephrotic Syndromes.
Offices and laboratories: Ranica
Last updated in December 2019
Toward a genetic and pathogenesis driven classification and treatment of primary membranoproliferative glomerulonephritis
Sponsor: Ministero della Salute, DGRicerca e Innovazione in Sanità
Research area: Rare diseases (Glomerulonefrite membranoproliferativa)
Understanding the pathogenetic role of genomic and molecular FH-FHR abnormalities in DDD and C3GN
Sponsor: Kidneeds Foundation
Research area: Rare diseases (glomerulopatia da depositi di C3)
Undiagnosed rare diseases: a bilateral project Italy-USA
Sponsor: Ministero degli Affari Esteri e della Cooperazione Internazionale
Research area: Rare diseases