The odyssey of rare diseases
DOI:
https://doi.org/10.30973/inventio/2023.19.49/7Keywords:
rare diseases, genetic diagnosis, next generation sequencing, gene therapy, cell therapyAbstract
People affected by rare diseases face unique challenges that limit them from obtaining a rapid diagnosis, thus suffering from what is known as a diagnostic odyssey. This article discusses the main elements that condition this odyssey and the strategies to face it. Likewise, some of the main strategies and technologies developed to provide corrective treatments to those suffering from rare diseases are described, considering that most of the more than seven thousand types of rare diseases do not have corrective treatment, thus affecting the access of affected people to a better quality of life.
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Copyright (c) 2005 Gabriela Denisse Mata Salgado, Iván Martínez-Duncker Ramírez, Mario Ernesto Cruz Muñoz
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Esta revista proporciona acceso abierto inmediato a su contenido, con base en el principio de ofrecer al público un acceso libre a las investigaciones para contribuir a un mayor intercambio global de conocimientos. Se distribuye bajo una licencia Creative Commons Reconocimiento-NoComercial 4.0 Internacional License.
