MAY 30 | |||
Introduction | 09:15 | Marije Bartels / Pierre-Emmanuel Gleizes | |
Basic and translational research 1 | 09:25 | Andrea Ditadi | - A view of human hematopoietic development and disease from the Petri dish |
09:45 | Dorine Swinkels | - Pathophysiology and diagnosis of iron overload and toxicity in DBA | |
10:05 | Emile van den Akker | - Towards transfusion-ready red blood cells from induced pluripotent stem cells (iPSCs) | |
Coffee break | 10:25 | - 11:00 | |
Basic and translational research 2 | 11:00 | Marie-Françoise O'Donohue | - HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia |
11:20 | Marc Baud'huin | - RPL13 mutation causes an acceleration of mesenchymal stem cell chondrogenic differentiation to the hypertrophic stage | |
11:40 | Alan Warren | - Convergent somatic evolution from early life in a germline ribosomopathy | |
Lunch | 12:00 | - 13:00 | |
Keynote lectures | 13:00 | Steve Ellis (Landsteiner lecture) | - Diamond Blackfan anemia and cancer predisposition: more questions than answers |
13:30 | Elspeth Payne | - High content zebrafish screens in ribosome protein mediated disorders | |
Innovative therapies and new treatments 1 | 14:05 | Stefan Karlsson | - Development of gene therapy for Diamond Blackfan anemia |
14:25 | Susanna Navarro | - En route to lentiviral gene therapy for RPS19-Diamond Blackfan anemia patients | |
14:45 | Johan Flygare | - CDK8/19 inhibitor RVU120 (SEL120) - a Diamond-Blackfan anemia drug candidate | |
Coffee Break | 15:05 | - 15:40 | |
Innovative therapies and new treatments 2 | 15:40 | Brigitte Strahm | - HSCT in children and adolescents with Diamond-Blackfan anemia |
16:00 | Jeffrey Lipton | - Cancer and Diamond Blackfan anemia (DBA) syndrome: Time to seize the opportunity | |
16:20 | Alexander Puzik | - When children grow up: what do we know about the medical needs of adult patients with Diamond Blackfan anemia | |
16:40 | Antonis Kattamis | - Iron overload in Diamond-Blackfan anemia | |
17:00 | Thierry Leblanc | - Diagnosing and treating Diamond Blackfan Anemia Syndrome: results of a second international consensus conference | |
Break | 17:20 | - 17:40 | |
Short talks | 17:40 | Ayse Gurel | - Duplication of RPL5 indicates “imbalance-of-function” as a novel mechanism in DBA |
17:52 | Simon Lebaron | - NSCP1, a new player in nucleolar stress resistance | |
18:04 | Nesligul Hasibe Gonen | - Somatic 5q deletion: a molecular diagnostic challenge in Diamond-Blackfan Anemia | |
Buffet | 18:45 | - 21:00 | Meet and greet with the patient representatives |
MAY 31 | |||
DBA registries and new cases 1 |
09:00 | Kaan Boztug | - Strategies of NGS data analysis to maximize efficiency of identification of causative gene defects in non-malignant hematological diseases and inherited bone marrow failure syndromes |
09:20 | Marije Bartels | - The power of patient registries : the EuroDBA experience | |
09:40 | Paola Quarello | - Osteosarcoma in Italian DBA patients: epidemiology and preliminary data on genomic somatic analysis | |
10:00 | Galina Ovsyannikova | - The rare cases of “Diamond-Blackfan anemia phenocopies”: a report from the Russian DBA registry | |
10:15 | Amir Hamidieh |
- The HSCT outcome update of seventeen Iranian DBA patients conditioned with a non-radiation myeloablative regimen
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Coffee break | 10:30 | - 11:05 | |
DBA registries and new cases 2 | 11:05 | Adrianna Vlachos | - An update from the Diamond Blackfan anemia registry of North America |
11:25 | Dagmar Pospisilova | - Clinical and selected laboratory characteristics of patients enrolled in the Czech and Slovak Diamond-Blackfan anemia Registry | |
11:40 | Arda Cetinkaya | - Diamond-Blackfan Anemia from a Recessive Perspective | |
Lunch | 12:00 | - 13:15 | |
Keynote lecture | 13:15 | Lionel Blanc | - Stage-specific hematopoietic failure in a novel model of Diamond Blackfan anemia |
Basic and translational research 3 | 13:45 | Devon Germain | - Characterization of Diamond-Blackfan Anemia patients and silent carriers via erythroid differentiation |
14:05 | Senthil Bhoopalan | - TP53-dependent hematopoietic stem cell defect in a novel CRISPR/Cas9-based model of DBA | |
14:25 | Yang Liu | - Therapeutic effects and single-cell profiling of a clinically applicable lentiviral vector for Diamond-blackfan anemia in human RPS19-deficient CD34+ hematopoietic progenitor and stem cells | |
14:45 | Jakob Berner | - HPO annotation and network analysis in Diamond-Blackfan Anemia | |
Closing remarks | 15:05 | Marcel Hibert | - Closing remarks from a PAO perspective |
Global Bridges 2022
Registration website for Global Bridges 2022Global Bridges 2022globalbridges2022@gmail.com
Global Bridges 2022globalbridges2022@gmail.comhttps://www.aanmelder.nl/131965
2022-05-30
2022-05-31
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Global Bridges 2022Global Bridges 20220.00EUROnlineOnly2019-01-01T00:00:00Z
Sanquin ResearchSanquin ResearchPlesmanlaan 125 1066 CX Amsterdam Netherlands