Pathogenic mechanisms of hematologic hereditary diseases

The main focus of the research is aimed at identifying the molecular basis of some rare hematological disorders, including inherited thrombocytopenias and Fanconi anemia. They are genetically heterogeneous diseases caused by many genes, whose specific functional role in the pathogenic mechanisms is often unclear. In particular our project address the following aspects:
a) identification of novel genes through next generation sequencing approaches;
b) development of functional assay to test the effect of the variants on protein function;
c) characterization of molecular mechanisms responsible for three forms of inherited thrombocytopenias caused by mutations in the RUNX1, ETV6, and ANKRD26 genes which are associated with an increased risk of developing hematological malignancies.
Our group collaborates with many clinical centers in Italy and worldwide in trying to collect data of patients for better characterization of the diseases, genotype/phenotype correlations, and appropriate management of the affected individuals.

Contacts
Anna Savoia
Department of Medical Sciences
University of Trieste
✉︎ asavoia@units.it
ArTS (List of Pubblications)