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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

Senior Researcher : Alejandra Gámez Abascal

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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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