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Diamond-Blackfan anaemia (DBA) is a rare condition. Affected children are usually diagnosed with severe anaemia in their first year of life. Currently, there is no cure. This project aims to improve understanding of the causes of the condition and lead to new treatments and improved diagnosis.
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Situation
Diamond-Blackfan anaemia (DBA) is a rare genetic condition where a child’s bone marrow fails to produce enough red blood cells. Affected children are usually diagnosed with severe anaemia in their first year of life. Currently, there is no cure and long-term treatment involving regular blood transfusions or steroid drugs can cause complications. This study aims to improve understanding of the underlying biological causes of the condition and lead to new treatments and improved diagnosis.
Solution
The researchers believe that the GATA1 protein, as part of its role in red blood production, may be involved in controlling genes that build the ribosomes themselves. They aim to find out whether the GATA1 protein directly controls ribosome production in red blood cells – and if rare faults in this gene found in patients affect this process, leading to DBA – and develop a new test that can identify these faults that may account for some children with DBA who currently have no genetic diagnosis.