5th Management Committee Meeting
3rd Working Groups Meeting
19-20 May 2022 Tuebingen, Germany
Local Organizers
University Hospital Tuebingen,
Tuebingen, Germany
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)
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- 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)
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- 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
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- A brief update and next steps (M. Klimiankou - V. Bezzerri)
18:00 - 19:00 Representation from the Industry and SMEs
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- 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)
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- 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)
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- 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)
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- 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