Members

Name: Kathleen

Surname: Freson

Academic title: Professor

Which is your area of expertise for the "Disease/group of diseases"?

• Diagnostics

Disease groups:

Hemophilia A Hemophilia B Rare constitutional aplastic anemia (Other than BDA, DKC, FA, SDS) Rare hemorrhagic disease due to constitutional coagulation factors defects (Other than Hemophilia and Von Willebrand disease) Rare hemorrhagic disorder due to a constitutional platelet anomaly Rare thrombotic disorder due to a coagulation factors defect Von Willebrand disease

Which is your patient age coverage?

• Pediatrics
• Adults

Webinars:

• Next-Generation Sequencing (NGS) in BMF: A Paradigm Shift
• Benefits and limitations of high-throughput sequencing for the diagnosis of constitutional thrombocytopenia
• Session 5: Genetic testing for IPFD – Advantage, limitations and future perspectives of for platelet dysfunction