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 (HUS/TTP), Membranoproliferative Glomerulonephritis, Steroid-Resistant Nephrotic Syndromes.
Offices and laboratories: Ranica
Data as at December 2021
A thorough understanding of the molecular players causing rare complement-mediated glomerular diseases toward a personalized therapy
Sponsor: FRRB (Fondazione Regionale Ricerca Biomedica)
Research area: Malattie Rare
Defining stratification of patients with C3 Glomerulopathies /Immunecomplex –mediated glomerular diseases for better diagnosis and tailored treatment (DECODE)
Sponsor: FRRB (Fondazione Regionale Ricerca Biomedica – Regione Lombardia)
Research area: Glomerulonefrite membrano proliferativa
Studio degli effetti funzionali di anomalie genetiche identificate nel fattore del complemento C3 in pazienti affetti da Glomerulopatia da C3
Sponsor: CSR (Cassa di Sovvenzioni e Risparmio)
Research area: Glomerulopatia a depositi di C3