SSC 21 - SSC Session - Genomics in Thrombosis and Hemostasis

Presentations:

• 4:30 PM – 4:40 PM

  Introduction and Updates on Gene and Variant Curation Projects
  

  Speaker: Kathleen Freson, PhD – Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
• 4:40 PM – 4:50 PM

  ClinGen Gene Curation for Hemostasis and Thrombosis and Future Directions
  

  Speaker: Kristy Lee, MS, CGC – Department of Genetics, University of North Carolina at Chapel Hill
• 4:50 PM – 5:00 PM

  The EAHAD Coagulation Factor Variant Databases: Important Resources for Hemostasis Clinicians and Researchers
  

  Speaker: John H. McVey, PhD – Department of Biomedical Sciences, University of Surrey, Guilford, UK
• 5:00 PM – 5:10 PM

  Antithrombin Deficiencies That Are Missed by Whole Exome Sequencing (WES)
  

  Speaker: Maria Eugenia de la Morena-Barrio, PhD – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
• 5:10 PM – 5:30 PM

  Q&A
  

  Speaker: Kate Downes, PhD – East Genomics, Cambridge Genomics Laboratory
• 5:30 PM – 5:40 PM

  Proteomic Profiling of Platelets in Health and Disease
  

  Speaker: Maartje van den Biggelaar, PhD – Department of Molecular Hematology, Sanquin Research, 1066 CX Amsterdam, the Netherlands
• 5:40 PM – 5:50 PM

  Integrative Genomics in the GeneSTAR Study to Understand Platelet Aggregation
  

  Speaker: Rasika Mathias, PhD – Johns Hopkins University
• 5:50 PM – 6:00 PM

  Non-coding (3’UTR) Determinants in Thrombosis and Hemostasis
  

  Speaker: Sven Danckwardt, MD – Center for Thrombosis and Hemostasis (CTH), University Medical Centre Mainz, Germany
• 6:00 PM – 6:10 PM

  Integrating a Polygenic Risk Score into Venous Thromboembolism Risk Prediction
  

  Speaker: Sarah Kalia, ScM, CGC – Harvard T.H. Chan School of Public Health
• 6:10 PM – 6:30 PM

  Q&A
  

  Speaker: Andrew D. D. Johnson, PhD – Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, USA.