Inherited Thrombocytopenias: Discovering the "New" Forms That Affect Half of Patients and Developing an in Vitro Tool for Testing the Ability of New Drugs to Increase Platelet Production and Predicting the Response to Treatment in the Individual Patient

The major problems when dealing with Inherited thrombocytopenias (ITs) are:

• achieving a diagnosis of certainty;
• setting up a personalized and effective treatment.

a) Near 50% of subjects remain without a diagnosis because they don't fit the diagnostic criteria for any known IT and don't have mutations in the causative genes identified so far. Our project, aimed at identifying new ITs by whole exome sequencing(WES) of a large number of subjects with unknow forms, will fill this gap; b)We want to improve therapy for ITs, which is presently mainly based on platelet transfusion, by the identification of new drugs and the usage of an innovative tool to predict in vitro patients' response to different treatment, allowing us to personalize therapeutic approaches.

Inclusion criteria

• Exclusion of any known IT after the application of a validated diagnostic algorithm based on clinical and laboratory criteria;
• Absence of mutations in genes known to be causative for IT;
• Acquisition of written informed consent.

Exclusion criteria

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