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 
       
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
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