OC 07 - Rare Bleeding Disorders I

Moderator(s)

• 

  Roseline d'Oiron, MD

  Director
  Centre for Haemophilia and Rare Congenital Bleeding Disorders, Bicêtre Hospital AP-HP, University of Paris-Saclay and UMR_S1176 INSERM, Le Kremlin-Bicêtre, France
  Le Kremlin-Bicetre, France
• 

  Joel Livingston, MSc, MD, FRCPC

  Physician & Assistant Professor
  Stollery Children's Hospital / The University of Alberta
  Edmonton, Alberta, Canada

Presentations:

• 13:00 – 13:15 ET

  Autologous CRISPR/Cas9 correction of a missense variant from a patient with severe, inherited FVII deficiency
  

  Presenting Author: Giacomo Roman, MSc – Department of Hematology, Oslo University Hospital, Oslo, Norway

  Co-Author: Knut H. Lauritzen – Department of Hematology, Oslo University Hospital, Oslo, Norway

  Co-Author: Sean Harrison – Oslo University Hospital

  Co-Author: Gareth J Sullivan – Department of Pediatric Research, Oslo University Hospital, Oslo, Norway

  Co-Author: Nina Iversen – Department of Medical Genetics, Oslo University Hospital, Oslo, Norway

  Co-Author: Carola Elisabeth Henriksson – Institute of Clinical Medicine, University of Oslo, Oslo

  Co-Author: Heidi Glosli – Division of Paediatric and Adolescent Medicine Centre for Rare Disorders Oslo University Hospital Oslo Norway.

  Co-Author: Per Morten Sandset – Oslo University Hospital

  Co-Author: Benedicte Stavik – Department of Hematology, Oslo University Hospital, Oslo, Norway

  Co-Author: Maria Eugenia Chollet Dugarte, MD, PhD (she/her/hers) – Department of Hematology, Research Institute of Internal Medicine, Oslo University Hospital
• 13:15 – 13:30 ET

  Investigating the dominant negative effect of heterozygous F13B gene mutations detected from mild FXIII deficiency patients
  

  Presenting Author: Haroon Javed, MSc – Institute of Experimental Haematology and Transfusion Medicine, University Hospital Bonn

  Co-Author: Sneha Singh, PhD (she/her/hers) – Institute of Experimental Hematology and Transfusion Medicine, University Clinic Bonn

  Co-Author: Samhitha Urs Ramaraje Urs, MSc – Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn

  Co-Author: Hamideh Yadegari, PhD – University Clinic Bonn Institute of Experimental Hematology and Transfusion Medicine Venusberg-Campus 1

  Co-Author: Johannes Oldenburg, MD (he/him/his) – University Clinic Bonn AöR, Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany

  Co-Author: Arijit Biswas, PD Dr (Biol) – Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn
• 13:30 – 13:45 ET

  In vitro and ex vivo rescue of a nonsense mutation (F5 p.Arg1161Ter) responsible for severe coagulation factor V deficiency
  

  Presenting Author: Alice M. Todaro, MSc – Department of Biochemistry, CARIM, Maastricht University, Maastricht (The Netherlands)

  Co-Author: Claudia M. Radu – Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, University of Padua Medical School, Padua (Italy)

  Co-Author: Maria Ciccone – Department of Medical Sciences, Section of Haematology, Sant’Anna Hospital, Ferrara University, Ferrara (Italy)

  Co-Author: Serena Toffanin – Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, University of Padua Medical School, Padua (Italy)

  Co-Author: Maria Luisa Serino – Department of Medical Sciences, Section of Haematology, Sant’Anna Hospital, Ferrara University, Ferrara (Italy)

  Co-Author: Elena Campello, MD, PhD (she/her/hers) – Department of Medicine, University of Padova, Italy

  Co-Author: Cristiana Bulato – Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, University of Padua Medical School, Padua (Italy)

  Co-Author: Barbara Lunghi – Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara (Italy)

  Co-Author: Donato Gemmati – Department of Medical Sciences, Section of Haematology, Sant’Anna Hospital, Ferrara University, Ferrara (Italy)

  Co-Author: Antonio Cuneo – Department of Medical Sciences, Section of Haematology, Sant’Anna Hospital, Ferrara University

  Co-Author: Tilman M. Hackeng, PhD – Coagulation Profile, Maastricht, The Netherlands

  Co-Author: Paolo Simioni, MD, PhD (he/him/his) – Department of Medicine, Thrombotic and Haemorrhagic Diseases Unit, University of Padua Medical School, Padua (Italy)

  Co-Author: Francesco Bernardi – Department of Life Sciences and Biotechnology, Section of Biochemistry and Molecular Biology, Ferrara University, Ferrara (Italy)

  Co-Author: Elisabetta Castoldi, PhD – Department of Biochemistry, CARIM, Maastricht University, Maastricht (The Netherlands)
• 13:45 – 14:00 ET

  HMB-001, a bispecific anti-FVIIa/anti-TLT-1 antibody, demonstrates effect in models of FVII deficiency
  

  Presenting Author: Henrik Ostergaard, PhD – Hemab Therapeutics

  Co-Author: Paolo Ferraresi – University of Ferrara, Department of Life Sciences and Biotechnology

  Co-Author: Marcello Baroni – University of Ferrara, Department of Life Sciences and Biotechnology

  Co-Author: Elena Tonetto – University of Ferrara, Department of Life Sciences and Biotechnology

  Co-Author: Amalie Carnbring Bonde – Hemab Therapeutics

  Co-Author: Catherine J. Rea, MA, PhD – Hemab Therapeutics

  Co-Author: Minka Zivkovic, MSc – Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

  Co-Author: Rolf T. Urbanus, PhD – Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands

  Co-Author: Johan H. Faber – Hemab Therapeutics

  Co-Author: Benny Sorensen – Hemab Therapeutics

  Co-Author: Mirko Pinotti – University of Ferrara, Department of Life Sciences and Biotechnology

  Co-Author: Francesco Bernardi – University of Ferrara, Department of Life Sciences and Biotechnology

  Co-Author: Prafull S. Gandhi – Hemab Therapeutics
• 14:00 – 14:15 ET

  Modeling and correcting FVII deficiency using human stem cell-derived hepatic organoids
  

  Presenting Author: Maria Eugenia Chollet Dugarte, MD, PhD (she/her/hers) – Department of Hematology, Research Institute of Internal Medicine, Oslo University Hospital

  Co-Author: Elisabeth Andersen – Oslo University Hospital

  Co-Author: Sean Harrison – Oslo University Hospital

  Co-Author: 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

  Co-Author: Saphira Baumgarten – University of Oslo

  Co-Author: Anindita Bhattacharya – University of Oslo

  Co-Author: Giacomo Roman, MSc – Department of Hematology, Oslo University Hospital, Oslo, Norway

  Co-Author: Mariane Andresen – Oslo University Hospital

  Co-Author: Carlos Bravo – Department of Hematology and Oncology, University Hospital Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB, CIBERER, Murcia, Spain

  Co-Author: Marie-Christine Mowinckel – Oslo University Hospital

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

  Co-Author: Per Morten Sandset – University of Oslo

  Co-Author: Gareth J Sullivan – Department of Pediatric Research, Oslo University Hospital, Oslo, Norway

  Co-Author: Benedicte Stavik – Department of Hematology, Oslo University Hospital, Oslo, Norway