5th Management Committee Meeting

3rd Working Groups Meeting

19-20 May 2022 Tuebingen, Germany

Local Organizers
University Hospital Tuebingen,
Tuebingen, Germany


Download the Agenda [pdf]


Day 1

5th Management Committee Meeting (virtual/hybrid meeting only for MC Members)

 

08:45 - 09:00 (Action’s Chair/Vice-Chair, GH Manager)

09:00 - 11:00 Management Committee Meeting

11:00 - 11:15 Coffee Break

 

3rd Working Groups Meeting - PART I (face-to face/hybrid meeting, all participants)

 

11:15 - 11:30 Welcome to all participants (J. Skokowa, H. Papadaki)

11:30 - 13:30 WG1 Session: Congenital Neutropenias (Chairs: A. Warren, K. Welte)

    • ADAN: ACKR1/DARC associated neutropenia (J. Palmblad)
    • Convergent somatic evolution from early life in a germline ribosomopathy (A. Warren)
    • High-resolution structures of the human ribosome to decipher the molecular basis of snoRNAs dysfunction in disease (S. Pellegrino)
    • WES/WGS of CN patients with unknown genetic disease cause (M. Klimiankou)

13:30 - 14:30 Lunch Break

14:30 - 16:30 WG2 Session: Acquired Neutropenias (Chairs: P. Hoglund, J. Bux, F. Fioredda)

    • Validation of a Luminex-based diagnostics tool for autoantibody diagnostics in childhood AIN (P.Höglund)
    • Variants of unknown significance (VUS): use, throw away or keep in the “fridge”
      • VUS in NGS myeloid panel for CIN adult patients (G. Tsaknakis, H. Papadaki)
      • VUS found in long lasting and late onset neutropenia of children (F. Fioredda, Pietro Casartelli, M. Lanciotti)
      • VUS in CSF3R genic or VOUS. (O. Steinberg, H. Tamary)
    • Update on guidelines diagnostic algorithms (F. Fioredda - H. Papadaki)
    • Acquired neutropenia in children: epiphenomena of immunedysregulation (A. Beccaria)
    • WES in CIN - a first approach (A. Grossi - G. Tsaknakis)

16:30 - 16:45 Coffee Break

16:45 - 17:30 Key-Note Speaker: "The history of congenital neutropenia" (Karl Welte)

17:30 - 18:00 Young EuNet-INNOCHRON

    • A brief update and next steps (M. Klimiankou - V. Bezzerri)

18:00 - 19:00 Representation from the Industry and SMEs

    • Genotype-Phenotype correlations in WHIM syndrome: studies of novel CXCR4 mutations (K. Zmajkovicova, X4 Pharmaceuticals)
    • European Health Data & Evidence Network (EHDEN) (P. Natsiavas)

Networking Dinner

 

Day 2

3rd Working Groups Meeting - PART II (face-to face/hybrid meeting to be attended by all participants)

 

09:00 - 11:00 WG3 Session: Mechanisms of Leukemic Evolution (Chairs: C. Mecucci, I. Touw)

    • The epi-genomic landscape of monosomy 7 in adult MDS/AML (A. Lema Fernandez)
    • Children with inherited cytopenia often has leukemia predisposition (H. Tamary)
    • Evaluation of the leukemogenic role of acquired CSF3R and RUNX1 mutations in HAX1 congenital neutropenia using iPSC-based model of granulocytic differentiation (B. Dannenmann)
    • Clonal metrics and dynamics in CIN (H. Papadaki, G. Tsaknakis)

11:00 - 11:15 Coffee Break

11:15 - 13:15 WG4 Session: Investigation of Targets for Novel Therapies (J. Skokowa, J. Cichy)

    • Updates on generation iPSCs-based models to study involvement of inhibitors of neutrophil proteases in neutropenia (J. Cichy)
    • CRISPR/Cas gene therapy of CN (J. Skokowa, M. Nasri, M. Ritter)
    • De novo design of new granulopoietic proteins to treat neutropenia (M. ELGamacy)
    • Potential novel agents in SDS treatment (V.Bezzerri)

13:15 - 14:15 Lunch Break

14:15 - 16:15 WG5 Session: CNP Registries and Biobanking (C. Zeidler, K. Stamatopoulos)

    • An update from the Training School of Thessaloniki (K. Stamatopoulos - C. Zeidler)
    • Adoption of the SCNIR forms as official forms of EuNet-INNOCHRON (C. Zeidler)
    • Data registration systems (E. Minga)
    • CIN database (H. Papadaki)
    • Perspectives for neutropenia study in Albania (A. Ivanaj)
    • Perspectives for neutropenia study in Montenegro (A. Celebic)

16:15- 16:30 Coffee Break

16:30 - 17:00 Patient Organizations: SDS Germany (D. Schorling, H. Blöcker)

17:00 - 17:30 An update on the Covid project (M. Spanoudakis, J. Palmbad)

17:30 - 17:45 An update from the Gender Equality Team (J. Roganovic - D. Yilmaz Karapinar)

17:45 - 18:30 All: Discussion for further steps

18:30 Closing remarks (J. Skokowa, H. Papadaki)

 

Name Affiliation City Country
Andrea Beccaria Hematology Unit, Department of Hematology-Oncology, Istituto G. Gaslini,  Children Research Hospital Genova Italy
Valentino Bezzerri Cystic Fibrosis Center, Azienda Ospedaliero Universitaria Ospedali Riuniti di Ancona Ancona Italy
Helen Blöcker SDS Germany, Chair Aichtal Germany
Juergen Bux Ruhr University Bochum Bochum Germany
Pietro Casartelli Istituto Giannina Gaslini, Children Research Hospital Genova Italy
Aleksander Celebic Clinical Center of Montenegro Podgorica Montenegro
Joanna Cichy Department of Immunology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University Krakow Poland
Benjamin Dannenmann Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tuebingen Tuebingen Germany
Mohammad ElGamacy Max Planck Institute for Developmental Biology / Division of Translational Oncology, Department of Hematology, Oncology, Clinical Immunology and Rheumatology, University Hospital Tübingen Tuebingen Germany
Francesca Fioredda Hematology Unit, IRCCS Istituto Giannina Gaslini, Children Research Hospital Genova Italy
Alice Grossi UOSD Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Children Research Hospital Genova Italy
Petter Höglund Center for Hematology and Regenerative Medicine (HERM), Departments of Hematology and Clinical Immunology and Transfusion Medicine , Karolinska University Hospital Huddinge Stockholm Sweden
Arben Ivanaj Department of Hematology, University Medical Center « Mother Teresa » Tirana Albania
Maksim Klimiankou Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tuebingen Tübingen Germany
Marina Lanciotti Hematology-Oncology Stem Cell Transplantation Pole, IRCCS Istituto Giannina Gaslini, Children Research Hospital Genova Italy
Anair Graciela Lema Fernandez Hematology and Bone Marrow Transplantation Unit, Department of Medicine, Molecular Medicine Laboratory, University of Perugia Perugia Italy
Cristina Mecucci Hematology and Bone Marrow Transplantation Unit, Department of Medicine, Molecular Medicine Laboratory, University of Perugia Perugia Italy
Evangelia Minga Centre for Research and Technology Hellas (CERTH) Thessaloniki Greece
Masoud Nasri Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tuebingen Tuebingen Germany
Pantelis Natsiavas Institute of Applied Biosciences, Centre for Research & Technology Hellas Thessaloniki Greece
Jan Palmblad Department of Medicine Karolinska Institutet, The Hematology Center, Karolinska University Hospital Huddinge Stockholm Sweden
Helen Papadaki Haemopoiesis Research Lab University of Crete / Haemopoiesis Department University Hospital of Heraklion Heraklion Greece
Simone Pellegrino Cambridge Institute for Medical Research ; Department of Haematology, University of Cambridge Cambridge UK
Malte Ritter Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tuebingen Tuebingen Germany
Jelena Roganovic Division of Hematology, Oncology and Clinical Genetics, Department of Pediatrics, University Hospital Center Rijeka Rijeka Croatia
David Schorling Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg; SDS Germany, Member Freiburg Germany
Julia Skokowa Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tuebingen Tübingen Germany
Michail Spanoudakis Department of Haematology, Warrington and Halton Teaching Hospitals NHS foundation Trust, Cheshire UK
Kostas Stamatopoulos Centre for Research and Technology Hellas (CERTH) Thessaloniki Greece
Orna Steinberg Shemer Department of Pediatric Hematology-Oncology, Schneider Children’s Medical Center of Israel Petah Tiqva Israel
Hannah Tamary Department of Pediatric Hematology-Oncology, Schneider Children’s Medical Center of Israel Petah Tiqva Israel
Ivo Touw Department of Hematology, Erasmus University Medical Center Rotterdam Netherlands
Grigorios Tsaknakis Haemopoiesis Research Lab, University of Crete Heraklion Greece
Alan Warren Cambridge Institute for Medical Research ; Department of Haematology, University of Cambridge; Wellcome Trust-Medical Research Council Stem Cell Institute, University of Cambridge, Cambridge UK
Karl Welte University Children's Hospital Tuebingen Tübingen Germany
Deniz Yilmaz Karapinar Department of Pediatric Hematology, School of Medicine, Ege University Izmir Turkey
Cornelia Zeidler Hannover Medical School; Director, SCNIR-European branch Hannover Germany
Katarina  Zmajkovicova X4 Pharmaceuticals (Austria) GmbH Vienna Austria


*Speakers/Chairs in alphabetical Order