Benefits and limitations of high-throughput sequencing for the diagnosis of constitutional thrombocytopenia
Benefits and limitations of high-throughput sequencing for the diagnosis of constitutional thrombocytopenia
03/07/2024 17:00
Speakers: Kathleen Freson
Target:
Health professionals
Subnetworks: Bleeding - Coagulation disorders
Disease Groups: Rare hemorrhagic disorder due to a constitutional platelet anomaly
Kathleen Freson is Professor at the University of Leuven in the department of cardiovascular Sciences and head of the Centre for Molecular and Vascular Biology. She has a background in bioscience engineering and her research focussed on genetic and biology studies using platelets to unravel new bleeding disorders but she studied also other mainly neurological diseases where the platelet was used as a model cell for the disease. She is co-chair of the ISTH Subcommittee 'Genomics in Thrombosis and Hemostasis', elected vice-chair of the SSC from ISTH and a member of the NIH-funded ClinGen working group for thrombosis and hemostasis.