Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 61, Issue 11, Pages 664-673Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2017.10.017
Keywords
Diamond-Blackfan anemia; Ribosomal protein genes; Ribosome biogenesis; Pre-rRNA processing; Polysome profiling
Categories
Funding
- ERARE
- DBA UK Charity
- ZonMW in the Netherlands [113301205, 40-44000-98-1008]
- Scientific and Technological Research Council of Turkey (TUBITAK) [315S192]
- Chief Scientist office, Israeli Ministry of Health in Israel [3-12844]
- ERA-NET-E-Rare-3/I/EuroDBA/05/2016 in Poland
- Fondazione Europea per l'Anemia di Diamond Blackfan
- Telethon grant [GGP13177]
- Laboratory of Excellence for Red Cells [(LABEX GR-Ex)-ANR] [Avenir-11-LABX-0005-02]
- French National PHRC OFABD [AOM09177]
- ANR DBA Multigenes ANR 2015 AAP generique [CE12-0001]
- [BMBF 01GM1301]
- [01GM1609]
- [ANR-15-RAR3-0007-04]
- [ANR-12-RARE-0007-02]
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Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of several ribosomal protein (RP) genes, although for similar to 30% of diagnosed patients no mutation is found in any of the known DBA-linked genes. Because DBA is such a rare disease with a particularly wide range of clinical phenotypes and molecular signatures, the development of collaborative efforts such as the ERARE-funded European DBA consortium (EuroDBA) has become imperative for DBA research. EuroDBA was founded in 2012 and brings together dedicated clinical and biological researchers of DBA from France, Italy, the Netherlands, Germany, Israel, Poland, and Turkey to achieve a number of goals including the consolidation of data in patient registries, establishment of minimal diagnostic criteria, and projects aimed at more fully describing the different mutations linked to DBA. This review will cover the history of the EuroDBA registries, the methods used by EuroDBA in the diagnosis of DBA, and how the consortium has successfully worked together towards the discovery of new DBA-linked genes and the better understanding their pathophysiological effects.
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