Integrated approach to the study of hematological diseases and the immune system /
Medicine and Metabolic Disease

Porphyrias
Study of genetic, epigenetic and metabolic factors in patients with different forms of Porphyria (acute hepatic porphyria, aminolevulenic acid dehydratase (ALAD) porphyria, erythropoietic protoporphyria (EPP). Study of homocysteine cycle metabolites in relation to response to Givlaaryin drug therapy with non-responders to therapy with special study of homocysteine cycle metabolites also in correlation with drug administration.  Study of genetic and non-genetic factors underlying complications of porphyria and porphyric phenotypes not ascribable to the heme biosynthetic pathway and in patients still "orphan of conclusive genetic diagnosis" study of the protein component. Improved knowledge of the pathophysiology of patients with Erythropoietic Protoporphyria /EPP).

Hemoglobinopathies (thalassemia and drepanocytosis)
Study of the pathophysiological basis, complications, and genotype-phenotype relationship with attention to the role of modifier genes, iron, oxidative stress, and the impact of new therapies.
Study of the effects of new treatment options on erythropoiesis and iron metabolism and clinical and genetic predictors of response.

Accumulation diseases (Gaucher's and Fabry's disease)

• Study of complications of Gaucher disease, with emphasis on iron dysmetabolism.
• Study of the genotype-phenotype relationship and complications of Fabry disease.

Primary Immunodeficiencies and Autoinflammatory Syndromes
The program involves a series of studies designed to define the relationship between gene expression and phenotypic manifestation of the disease in relation to autoinflammatory status and T cell function. 

Clinical research activities aimed at:

• study of natural history, complications and clinical management through single- and multi-center observational studies and participation in national and international disease registries
• testing of innovative drugs for the treatment of the above diseases.