Rare Diseases Center
Fondazione IRCCS Ca’ Granda
Ospedale Maggiore Policlinico
Via F. Sforza 35
Prof.ssa of Internal Medicine Maria Domenica Cappellini
The center is recognized at national level for the diagnosis and care of patients affected by all forms of porphyria. It offers an outpatient service for first visits and follow up and, a day hospital service for administration of treatments. The clinical activity is supported for blood tests by the central analysis laboratory with a toxicology section specialized in the biochemical diagnosis of porphyria. The genetic analysis is instead performed in the laboratory for the diagnosis and care of rare diseases directly related to the center. This laboratory also carries out research activity on the variability of the clinical expression of the disease taking into consideration the phenotype-genotype relationship and the co-inheritance with modifier genes. The center actively participates in clinical trials for the development of new therapies.
Giovanna Graziadei, MD Specialist in Internal Medicine and Hematology
Elena Di Pierro, PhD in Molecular Medicine