OC 64 - Inherited Thrombocytopenias

Moderator(s)

• 

  Jose RIVERA POZO, PhD

  Staff Facultative; Associate Professor
  Blood Processing-Platelets & Internal Medicine
  Centro Regional de Hemodonación & University of Murcia
  Murcia, Murcia, Spain
• 

  Rachel Stapley, PhD

  Postdoctoral Research Fellow
  Institute of Cardiovascular Sciences
  University of Birmingham
  Birmingham, England, United Kingdom

Presentations:

• 2:45 PM – 3:00 PM

  The VarioPath project: Determining effect sizes of pathogenic variants in platelet disorder genes, using clinical data from 0.5M whole exome sequenced UK Biobank participants
  

  Presenting Author: Janine Collins, MB BChir MRCP – University of Cambridge

  Co-Author: Luca Stefanucci – University of Cambridge

  Co-Author: Matthew Sims – Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

  Co-Author: Kathleen Freson, PhD – Center for Molecular and Vascular Biology, University of Leuven, Belgium

  Co-Author: Elspeth Bruford – University of Cambridge

  Co-Author: Karyn Megy – University of Cambridge

  Co-Author: Dragana Vuckovic – Imperial college London
• 3:00 PM – 3:15 PM

  Platelet RNA sequencing and generation of an imMKCL-based cell model for SLFN14 K219N deficiency show evidence of increased cellular stress
  

  Presenting Author: Fabienne Ver Donck, MS – Center for Molecular and Vascular Biology, University of Leuven, Belgium

  Co-Author: Kato Ramaekers – Center for Molecular and Vascular Biology, University of Leuven, Belgium

  Co-Author: Chantal Thys – Center for Molecular and Vascular Biology, University of Leuven, Belgium

  Co-Author: Kathelijne Peerlinck – University Hospitals Leuven

  Co-Author: Chris Van Geet – Paediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium

  Co-Author: Koji Eto – Kyoto University

  Co-Author: Veerle Labarque – Paediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium

  Co-Author: Kathleen Freson, PhD – Center for Molecular and Vascular Biology, University of Leuven, Belgium
• 3:15 PM – 3:30 PM

  Novel GNE gene variants associated with severe congenital thrombocytopenia and platelet sialylation defect - follow up data after hematopoietic stem cell transplantation
  

  Presenting Author: Barbara Zieger – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Doris Boeckelmann, PhD – Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Waseem Anani – Translational Glycomics Center, Versiti Blood Research Institute

  Co-Author: Hervé Falet, PhD – The Medical College of Wisconsin

  Co-Author: Jieqing Zhu – Translational Glycomics Center, Versiti Blood Research Institute

  Co-Author: Hannah Glonnegger – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Hermann Full – Clinic for Pediatric and Adolescent Medicine, SLK-Kliniken Heilbronn

  Co-Author: Felicia Andresen – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Miriam Erlacher – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Ekkehart Lausch – Pediatric Genetics Section, Department of Pediatrics, University of Freiburg

  Co-Author: Salome Fels – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Brigitte Strahm – Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg

  Co-Author: Peter Lang – University Children’s Hospital Tuebingen, Department I – General Pediatrics, Hematology/Oncology, Tuebingen, Germany

  Co-Author: Karin M. Hoffmeister, MD – Versiti Translational Glycomics Center
• 3:30 PM – 3:45 PM

  Modeling gray platelet syndrome: longitudinal mouse studies and in vitro human iPSC-derived megakaryocytes to investigate clinical and cellular features
  

  Co-Author: Janine H. Collins – University of Cambridge

  Co-Author: Louisa Mayer – University of Cambridge

  Co-Author: Laxmikanth Kollipara – Leibniz-Institut f»r Analytische Wissenschaften _ ISAS _ e.V.

  Co-Author: Albert Sickmann – Leibniz-Institut für Analytische Wissenschaften – ISAS – e.V. Dortmund, Germany

  Co-Author: Houjiang Zhou – Zhejiang Hisun Pharmaceutical

  Co-Author: Gary Hoffman – the university of western australia

  Co-Author: Wendy Erber – the university of western australia

  Co-Author: Cedric Ghevaert, MD PhD – University of Cambridge

  Co-Author: Willem H Ouwehand – Department of Haematology, University of Cambridge and NHS Blood and Transplant, NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK. Department of Haematology, University College London Hospitals, London, NW1 2BU, UK

  Presenting Author: Jose A. Guerrero, PhD – University of Cambridge
• 3:45 PM – 4:00 PM

  Effect of the DIAPH1 R1213* GOF variant in actin-dependent cytoskeleton organization in megakaryocytes
  

  Co-Author: Verónica Palma-Barqueros – Centro Regional de Hemodonación-IMIB

  Co-Author: Loredana Bury, PhD – University of Perugia

  Presenting Author: Ana Zamora-Canovas – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Spain

  Co-Author: Haripriya Kuchi Bhotla – University of Perugia, Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine

  Co-Author: Ana Sánchez-Fuentes, PhD – Centro Regional de Hemodonación-IMIB

  Co-Author: Nuria Revilla – Hospital Universitario Ramón y Cajal, Madrid, Spain

  Co-Author: Agustín Rodríguez-Alen – Hospital Virgen de la Salud, Toledo, Spain

  Co-Author: Alexandra Torrecillas – Centro Regional de Hemodonación-IMIB

  Co-Author: Natal Bohdan – Centro Regional de Hemodonación-IMIB

  Co-Author: Vicente Vicente – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer-Centro Regional de Hemodonación, Universidad de Murcia, IMIB, CIBERER Spain

  Co-Author: María L Lozano – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer-Centro Regional de Hemodonación, Universidad de Murcia, IMIB, CIBERER Spain

  Co-Author: José M Bastida, PhD, MD – Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Spain; On behalf of “Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC)”, Sociedad Española de Trombosis y Hemostasia (SETH)

  Co-Author: Paolo Gresele, MD, PhD – University of Perugia, Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine

  Co-Author: JOSE RIVERA Rivera, PhD – Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, Spain; On behalf of “Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC)”, Sociedad Española de Trombosis y Hemostasia (SETH)