Project: The European Diamond-Blackfan Anemia Consortium
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow (BM) failure syndrome characterized by early onset red cell aplasia and physical anomalies present in 50% of affected children. Therapeutic principles consist of transfusions, corticosteroids, or BM transplantation. However, clinical predictors or biomarkers allowing for early treatment stratification are missing. DBA is considered a ribosomopathy, driven by haploinsufficiency of ribosomal protein genes. However, in 1/3 of all DBA patients the genetic cause is unknown. The European DBA consortium (EuroDBA, established in 2012 with E-RARE funding) successfully consolidated the major European DBA patient registries, identified and characterized novel gene defects, published studies revealing new molecular pathomechanisms, and achieved an unprecedented level of global outreach to DBA investigators and patients from 25 countries. To continue this trajectory of success we propose to expand the consortium to include additional groups and assist them establishing national registries, biobanks and clinical guidelines. With this new clinical infrastructure bringing together 7 countries, we aim to harmonize clinical reporting and genetic testing; to systematically catalogue the DBA phenotype and correlate to genotype, and search for prognostic indicators ultimately improving clinical outcome. Novel genetic variants will be explored in central functional platform (erythroid culture, ribosome biogenesis/ rRNA profiling and zebrafish modelling) and the results translated into development of straightforward diagnostic tests
| Acronym | EuroDBA |
| Duration | 01/01/2016 - 01/12/2018 |
| Project Topic | 7th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2015) |
| Network | E-Rare-3 |
| Call | E-Rare-3 JTC 2015 |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | Amsterdam Medical Center Amsterdam The Netherlands | Coordinator | Netherlands |
| 2 | University of Freiburg | Partner | Germany |
| 3 | University of Paris | Partner | France |
| 4 | University of Toulouse | Partner | France |
| 5 | Schneider Children's Medical Center of Israel | Partner | Israel |
| 6 | Medical University of Warsaw | Partner | Poland |
| 7 | Hacettepe University | Partner | Türkiye |