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.

France
Germany
The Netherlands
EuroDBA
European Diamond-Blackfan Anemia Consortium

Project Coordinator

Hubrecht Institute
Utrecht
The Netherlands

Partners

Lydie Da Costa Hematology University Paris-VII-Denis Diderot Paris Paris, France
Marcin Wlodarski Pediatric Haematology and Oncology University Childrens Hospital Freiburg Freiburg, Germany
Richard van Wijk Department of Clinical Chemistry and Haematology University Medical Center Utrecht Utrecht, The Netherlands

Diamond-Blackfan anemia (DBA) is a rare inherited genetic disorder, typically diagnosed in the first year of life, which affects cells in the bone marrow and their capacity to produce red blood cells. The result is severe anemia. While some patients respond well to corticosteroid treatment, many are blood transfusion dependent and still others require bone marrow transplants to survive.

To date, approximately 70% of all DBA patients have been found to carry mutations in ribosomal protein genes. However the mechanisms underlying why these mutations so specifically result in red blood cell loss remain largely unknown. Our consortium, EuroDBA, brings together researchers from both clinical and biological backgrounds. With our creation of a European-wide DBA patient registry, we aim to discover the remaining 30% of unknown gene mutations linked to DBA, and to determine how these novel and previously known mutations affect cells in the bone marrow in a way that ultimately leads to anemia.

E-Rare 2012 - Created by Toussaint Biger