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.
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Project Coordinator
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.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France