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Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Senior Researcher : Rosario Perona Abellón
Research Centre or Institution : Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM.
Abstract
The overall objective of this project is to further the validation and development of tools for the therapeutic application of the GSE24-2 fragment for the treatment of various diseases, including dyskeratosis congenita, Werner syndrome, idiopathic pulmonary fibrosis, aplastic anaemia, ulcerative colitis and skin ageing as well as obtaining immortal human cell lines. Following the original plan, in 2010 lentiviral vectors were derived, using hPGK and CMV promoters, with which primary human cells, both lymphoblasts and fibroblasts, were infected and an increase in telomerase activity was observed. These vectors will begin to be used to infect bone marrow cells in mice. Vectors have also been obtained for the 24 2 peptide production in E. coli and the peptide from bacterial extracts has been purified. This peptide is capable of activating the promoter of c myc and reactivating telomerase activity in a proportion similar to that obtained with the retroviral plasmid vector.
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
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23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
- The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development 2020 Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
- Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation 2020 Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
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