García Fernández José M, Ortiz Mellet Carmen
Instituto de Investigaciones Químicas (IIQ), CSIC-Universidad de Sevilla, Avda. Américo Vespucio 49, Isla de la Cartuja, 41092 Sevilla, Spain.
Department of Organic Chemistry, Faculty of Chemistry, University of Seville, C/Profesor García González 1, 41012 Seville, Spain.
ACS Med Chem Lett. 2019 Jun 18;10(7):1020-1023. doi: 10.1021/acsmedchemlett.9b00242. eCollection 2019 Jul 11.
"Orphan" does not mean infrequent: over 7000 rare diseases affect millions of individuals. The US Orphan Drug Act and analogous regulations have succeeded at accelerating the development of novel therapies, but high prices threaten sustainability. Lysosomal storage disorders serve here to illustrate the light and shadows of this burgeoning field.
“罕见病”并不意味着发病率低：超过7000种罕见病影响着数百万患者。美国《孤儿药法案》及类似法规已成功加速了新型疗法的研发，但高昂的价格威胁到了其可持续性。溶酶体贮积症可用来例证这一新兴领域的光明与阴影。
