OC 55 - Inherited platelet disorders - Functional analysis

Moderator(s)

• 

  Junling Liu, PhD

  Principle investigator
  Shanghai Jiao Tong University School of Medicine
  Shanghai, Shanghai, China (People's Republic)
• 

  Walter Kahr, MD, PhD

  Staff Physician, Senior Scientist, Hospital for Sick Children
  Professor Departments of Paediatrics & Biochemistry, University of Toronto
  Toronto, Ontario, Canada

Presentations:

• 09:30 – 09:45 ICT

  Decreased platelet RABGAP1L (RAB GTPase Activating Protein 1 Like) expression in RUNX1 haplodeficiency - RUNX1 regulates RABGAP1L
  

  Presenting Author: Fabiola Del Carpio-Cano, PhD – Lewis Katz School of Medicine, Temple University

  Co-Author: Liying Guan – Lewis Katz School of Medicine, Temple University

  Co-Author: Gauthami Jalagadugula – Lewis Katz School of Medicine, Temple University

  Co-Author: A. Koneti Rao – Lewis Katz School Of Medicine, Temple University
• 09:45 – 10:00 ICT

  Diagnosing inherited platelet disorders using immunofluorescence-microscopy on the peripheral blood smear: preliminary results from the first international workshop
  

  Presenting Author: Carlo Zaninetti, MD, PhD – Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Germany

  Co-Author: José Rivera, PhD – Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain.#Grupo Español de Alteraciones Plaquetarias Congénitas (GEAPC) de la SETH

  Co-Author: Loredana Bury – Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy

  Co-Author: Valeria Bozzi – Department of Internal Medicine, University of Pavia, Pavia, Italy

  Co-Author: Karina Althaus, MD – Center for Clinical Transfusion Medicine, University Hospital Tuebingen

  Co-Author: Simon A. Brown – Department of Haematology, Pathology Queensland, Centre for Children’s Health and Research (CCHR), South Brisbane, Australia.

  Co-Author: Dorothée Faille – Université Paris Cité, INSERM, U1148, F-75018 Paris

  Co-Author: Alain Stepanian – AP-HP, Service d'Hématologie Biologique, Hôpital Lariboisière, Paris Cité University, Paris, France

  Co-Author: Ana Zamora-Cánovas – Servicio de Hematología y Oncología Médica-HU Morales Meseguer-Centro Regional de Hemodonación-CIBERER-ISCIII-CB15/00055, IMIB-Pascual Parrilla, Universidad de Murcia, Murcia, Spain

  Co-Author: Andrew Norman – Department of Haematology, Pathology Queensland, Centre for Children’s Health and Research (CCHR), South Brisbane, Australia.

  Co-Author: Carmen Freyer – Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Germany

  Co-Author: Tamam Bakchoul, Professor MD – Center for Clinical and Experimental Transfusion Medicine, University Hospital of Tuebingen

  Co-Author: Alessandro Pecci – Department of Internal Medicine, University of Pavia, Pavia, Italy

  Co-Author: Paola Gresele, MD, PhD – University of Perugia

  Co-Author: Thomas Thiele – Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Germany

  Co-Author: Andreas Greinacher – Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Germany
• 10:00 – 10:15 ICT

  FLI1Met100* mutation accelerates megakaryocyte differentiation and attenuates maturation
  

  Presenting Author: Huan Zhang – Sanquin Research Amsterdam

  Co-Author: Roel van Rhijn – Sanquin Research Amsterdam

  Co-Author: Arthur Flohr Svendsen – Sanquin Research Amsterdam

  Co-Author: Carmen van der Zwaan – Department of Molecular Hematology, Sanquin Research, Amsterdam, the Netherlands

  Co-Author: Marten Hansen – Sanquin Research Amsterdam

  Co-Author: Arie J. Hoogendijk – Molecular Hematology, Sanquin Research, Amsterdam, the Netherlands

  Co-Author: Elise Huisman – Erasmus Medical Centre Rotterdam

  Co-Author: Emile van den Akker – Sanquin Research Amsterdam
• 10:15 – 10:30 ICT

  Identification of the role of ERAD proteins in platelet function through multispecies modeling of a thrombasthenia
  

  Presenting Author: Anna R. Dahlgren, PhD – University of Michigan

  Co-Author: Francesca Careddu – University of Pavia

  Co-Author: Reheman Adili – Bloodworks Northwest

  Co-Author: Erin Kropp – University of Michigan

  Co-Author: Qing Li – University of Michigan

  Co-Author: Michael Holinstat – University of Michigan

  Co-Author: Ida Biunno – University of Pavia

  Co-Author: Alessandra Balduini, MD – University of Pavia, Pavia, Italy

  Co-Author: Fern Tablin – University of California Davis

  Co-Author: Carrie Finno – University of California Davis

  Co-Author: Jordan Shavit, MD, PhD – University of Michigan
• 10:30 – 10:45 ICT

  Impaired protein composition unveils alterations in platelet structure and functionality and contributes to hemorrhagic syndrome in ETV6-related thrombocytopenia
  

  Co-Author: Ivan Tesakov – Dmitry Rogachev National Medical Research Centеr of Pediatric Hematology, Oncology and Immunology

  Co-Author: Alexey Martyanov – Dmitry Rogachev National Medical Research Centеr of Pediatric Hematology, Oncology and Immunology

  Co-Author: Darya Fedorova – Dmitry Rogachev National Medical Research Centеr of Pediatric Hematology, Oncology and Immunology

  Co-Author: Olga An, MD – University Medical Center Mainz, Center for Thrombosis and Hemostasis

  Presenting Author: Anna Boldova, PhD – Center for Theoretical Problems of Physicochemical Pharmacology

  Co-Author: Andrei Garzon – Center for Theoretical Problems of Physico-Сhemical Pharmacology

  Co-Author: Anastasia Ignatova – Dmitry Rogachev National Medical Research Centеr of Pediatric Hematology, Oncology and Immunology

  Co-Author: Julia-Jessica Korobkin – Center for Theoretical Problems of Physico-Сhemical Pharmacology

  Co-Author: Anna Pavlova – Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn

  Co-Author: Eugenia Yushkova – Center for Theoretical Problems of Physico-Сhemical Pharmacology

  Co-Author: Viktor Zgoda – Institute of Biomedical Chemistry

  Co-Author: Pavel Zharkov – Dmitry Rogachev National Medical Research Center Of Pediatric Hematology, Oncology and Immunology

  Co-Author: Mikhail Panteleev – Center for Theoretical Problems of Physico-Сhemical Pharmacology

  Co-Author: Galina A. Novichkova – Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

  Co-Author: Anastasia N. Sveshnikova – Dmitry Rogachev National Medical Research Center Of Pediatric Hematology, Oncology and Immunology, Moscow, Russia