CORDIS Project
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This project focuses on improving the diagnosis and treatment of Congenital Dyserythropoietic Anemias (CDA) using next-generation sequencing technology. It aims to develop new diagnostic panels and gene therapy tools, enhancing patient outcomes and quality of life.
The emergence of next-generation sequencing technology (NGS) has revolutionized the diagnosis of genetic diseases including hereditary haematological diseases (HHD) providing a fast and accurate diagnosis, which ultimately leads to health improvement in these patients, as effective treatments are earlier provided, avoiding unwanted and detrimental aspects such as iron toxicity.
Gene therapy is starting to be successfully applied in HHD.
BloodGenetics (BG) S.L. has previously identified new mutat…
BLOODGENETICS SL
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