Rare disease research
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Francesc Palau [1] ; Carmen Ayuso [2]
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[1] Universitat de Barcelona
Universitat de Barcelona
Barcelona, España
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[2] Universidad Autónoma de Madrid
Universidad Autónoma de Madrid
Madrid, España
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- Localización: Handbook of bioethical decisions / coord. por Erick Valdés, Juan Alberto Lecaros Urzúa, Vol. 1, 2023 (Handbook of Bioethical Decisions. Volume I. Decisions at the Bench), ISBN 9783031294501, págs. 123-143
- Idioma: inglés
- Texto completo no disponible (Saber más ...)
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Resumen
We address ethical issues in the field of rare diseases (RDs) focusing on four aspects that are relevant for research and translation into clinical practice. First, the reuse of personal, health and genomic data, for research purposes, beyond the main purpose for which they were collected. Later, three aspects related to fundamental parts of clinical medicine such as diagnosis, treatment and prevention in relation to RDs. In this context, we address ethical aspects of research and its practical application that have to do with the diagnostic effort in patients with undiagnosed diseases. A third topic is research programs in rare disease therapy and its translation into the treatment of patients. Finally, some points are discussed regarding the incorporation of genomic analysis in newborn screening, having the analysis of genetic variants as a complementary biomarker to biochemical tests that allows expanding the number of RDs in which to act preventively.
