Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

The Netherlands
The European Diamond-Blackfan Anemia Consortium

Project Coordinator

Amsterdam Medical Center
The Netherlands


Marcin Wlodarski Pediatric Hematology and Oncology University of Freiburg Freiburg, Germany
Lydie Da Costa Robert Debré Hospital Paris, France
Pierre-Emmanuel Gleizes University of Toulouse Toulouse, France
Hannah Tamary Hematology Unit, Schneider Children's Medical Center of Israel Petach Tikvah, Israel
Sule Unal Hacettepe University Ankara, Turkey
Katarzyna Albrecht Medical University of Warsaw Warsaw, Poland

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome characterized by early onset red cell aplasia in addition to physical anomalies present in 50% of affected children. Therapeutic principles consist of transfusions, corticosteroids, or hematopoietic stem cell transplantation. However there are no predictors allowing for early treatment stratification. While mutations in ribosomal protein genes are found linked to DBA, underlying etiologies are unresolved in 1/3 of all patients. The EuroDBA consortium was established 2012 with the aim to identify novel genetic defects and to study the pathogenesis of DBA. We have since successfully adjoined the major European DBA patient registries, identified and characterized novel gene mutations, published studies revealing new molecular pathomechanisms, and achieved an exceptional level of global outreach to DBA investigators and patients. To continue this trajectory of success we first propose to expand the consortium to include the other European groups and assist them to establish national registries/biobanks and patient support groups. With this clinical platform we aim to harmonize clinical reporting and genetic testing and genotype/phenotype studies, to better define the non-hematological phenotype (“ribosomopathy” features) of DBA, and to identify disease biomarkers. For the categorization of known and novel genetic variants, we will perform functional analyses in a centralized fashion. These will include differentiation and ribosome biogenesis assays, rRNA/proteomic profiling, and zebrafish modeling.

E-Rare 2012 - Created by Toussaint Biger