Research projects
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Alternative therapies for inherited metabolic diseases
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
Abstract
The objective of this project is to investigate and develop alternative therapies for inherited metabolic diseases whose treatment, if any, is not completely satisfactory at a clinical and/or psychosocial level and whose prognosis in most cases is fatal. To this end enzyme replacement or substitution therapy will be explored for the treatment of diseases such as maple syrup urine disease or homocystinuria. Additionally investigation will be conducted into the therapeutic potential of emerging molecular chaperone therapy for genetic diseases in which the predominant disease-causing mutations affect protein stability and/or folding but retain a considerable degree of residual activity, as in the case of congenital disorders of glycosylation (CDG).
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27
Nov
2019
International Symposium Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society Barcelona, Wednesday and Thursday, November 27 and 28, 2019 9:30 hours
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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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26
Sep
2022
Conference Terapia génica y celular avanzada… Más allá de la última frontera Madrid, Monday, 26 September 2022, 19:00 hours
- Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases 2016 Senior Researcher : Paola Bovolenta Nicolao Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
- Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-) 2016 Senior Researcher : César Cobaleda Hernández Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
- Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease 2018 Senior Researcher : María Luisa Toribio García Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
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