ADGENTHE-CDA · Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia

Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia

Hereditary haematological diseases (HHD) comprise a large and heterogeneous group of rare disorders for which easy-to apply tools for diagnosis, clinical management and patient stratification are currently lacking. A big number of patients remain without a final diagnosis due to the genetic complexity and high diagnostic costs. Therefore, there is an urgent need to provide a fast and accurate diagnosis of HHD for applying an earlier and adequate treatment. The emergence of next-generation sequencing technology (NGS) has revolutionized the diagnosis of genetic diseases including HHD providing a fast and accurate diagnosis. This proposal is focused in a particular HHD, the Congenital Dyserithropoietic Anemias (CDA), a bone marrow failure condition characterized by congenital anemia with ineffective erythropoiesis. The onset of CDA usually occurs in childhood or during the first years of adult age. The identification of mutated genes involved in CDA has improved the diagnostic possibilities and allowed a better classification of patients. Nevertheless, about 40% are unsolved CDAs due to the ignorance of the causative genes. BloodGenetics (BG) S.L. has previously identified new mutations and new causative genes of HHD and nowadays is commercializing NGS-panels for a number of HHD. Gene therapy is starting to be successfully applied in HHD. This project is important for society because it will result in both the achievement of a faster and more accurate diagnosis of CDA and the establishment of molecular tools for CDA gene therapy, which overall will dramatically improve patients’ quality of life. Benefits for society: -Enhanced innovative capacities in developmenting and commercializimg a novel and improved Gene Panel for diagnosis of CDA. - Enables completion of preclinical experimentation steps for gene therapy for CDA type II. -Addressing rare diseases like CDA and establishing links with Spanish CDA Patient Association. Objectives: 1. Establish a new genetic panel with novel genes for CDA diagnosis 2. Develop engineered cellular models for CDA type II. 3. Develop gene therapy tools for type II CDA in collaboration with UIC and CIEMAT. Conclusions: The project has significantly benefitted society by enhancing innovative capacities through the development and commercialization of a novel Gene Panel for CDA diagnosis. Additionally, it has paved the way for advancing gene therapy for CDA type II by enabling the completion of preclinical experimentation steps. Moreover, the project's focus on addressing rare diseases like CDA and establishing links with the Spanish CDA Patient Association underscores its commitment to improving healthcare outcomes and patient support. Overall, the project has successfully accomplished its objectives and milestones, marking a significant step forward in the field of CDA research, diagnosis and treatment.

Текст от CORDIS, на английски · Данни: CORDIS, © Европейски съюз