Doing it All - How Families are Reshaping Rare Disease Research.
Doing it All - How Families are Reshaping Rare Disease Research.
复制标题
全力以赴——家庭如何重塑罕见疾病研究。
DOI：
10.1007/s11095-018-2481-7
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发表时间：
2018
影响因子：
3.7
通讯作者：
Perlstein,EthanO
中科院分区：
文献类型：
--
作者：
Ekins,Sean;Perlstein,EthanO
罕见疾病药物发现和开发的面貌正在我们眼前发生变化。过去的异类是勇敢的父母，他们鼓起勇气，不顾一切地对待自己的孩子。想想以罕见疾病为主题的电影《洛伦佐的油》（Lorenzo’s Oil）和《非凡措施》（Extraordinary Measures），但现在它们加快了开发治疗方法的速度，甚至更快。现在，家长、患者倡导者和他们的合作者都能够自己完成所有的工作。我们认为，这将对所有人产生深远的影响，从几十年来一直占据主导地位的罕见病基金会，到数十亿美元的罕见病市场，以及栖息在这个领域的生物制药公司、风投和天使投资者。这种中断的影响无疑将影响医疗保健，并最终影响我们如何开发主要疾病的治疗方法。我们从近年来与许多罕见病家庭和患者倡导者的个人经验中为我们的观点提供了几条证据。
The face of rare disease drug discovery and development is changing right before our eyes. The outliers of the past were the plucky parents who summoned up the courage to try to treat their children against all odds. Think of the rare disease focused movies ‘Lorenzo’s Oil’ and ‘Extraordinary Measures’ but now accelerated to develop treatments even quicker. Parents, patient advocates and their collaborators are now capable of doing it all themselves. We think this will have profound implications for everyone from the incumbent rare disease foundations that have held sway for decades to the multibillion dollar rare disease market, BioPharma companies, VCs and angel investors that inhabit this space. The repercussions of this disruption will no doubt impact healthcare in general and ultimately influence how we develop treatments for major diseases as well. We present several lines of evidence for our viewpoint from our personal experiences interacting with many rare disease families and patient advocates in recent years.