Italy

City: 

Milan

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

Tel: 

+390255033493

Fax: 

+390255033665

Director: 

Prof.ssa of Internal Medicine Maria Domenica Cappellini

Email: 

maria.capperemovellini@@unimi.it

Tel: 

+390255033358

Activities: 

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.

Clinical questions contact: 

Giovanna Graziadei, MD Specialist in Internal Medicine and Hematology

Email: 

giovanna.graziadei@@policlremoveinico.mi.it

Tel: 

+390255033297

Laboratory contact: 

Elena Di Pierro, PhD in Molecular Medicine

Email: 

elena.diremovepierro@unimi.it

Tel: 

+390255036155