Name of Centre
Rare Diseases Center
Full address
Fondazione IRCCS Ca’ Granda
Ospedale Maggiore Policlinico
Via F. Sforza 35
20122 Milano
Email
centro.anemieconremovegenite@policlinico.mi.it
Website
https://www.policlinico.mi.it
Direttore
Prof.ssa of Internal Medicine Maria Domenica Cappellini
Email
maria.capperemovellini@unimi.it
Attività relative alla Porfiria
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
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.
Riferimento clinico
Giovanna Graziadei, MD Specialist in Internal Medicine and Hematology
Email
giovanna.graziadei@policlremoveinico.mi.it
riferimento di laboratorio
Elena Di Pierro, PhD in Molecular Medicine
Email
elena.diremovepierro@unimi.it