An online compendium of treatable genetic disorders.
An online compendium of treatable genetic disorders.
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DOI：
10.1002/ajmg.c.31874
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发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Scott RH
中科院分区：
文献类型：
--
作者：
Bick D;Bick SL;Dimmock DP;Fowler TA;Caulfield MJ;Scott RH
超过4000个基因与可识别的孟德尔/单基因疾病有关。当面对一种罕见的遗传疾病的新诊断时，卫生保健提供者越来越多地转向互联网资源获取信息，以了解疾病和直接护理。不幸的是，由于关键细节分散在许多权威网站和众多期刊文章中，因此寻找有关罕见疾病治疗的信息可能具有挑战性。本文中描述的网站和相关的移动设备应用程序通过提供一个方便的、随时可用的起点来查找治疗信息，开始解决这一挑战。Rx-genes.com （https://www.rx-genes.com/）网站的重点是针对疾病机制的治疗，从而改变疾病的自然历史。该网站目前包含633个疾病条目，包括疾病信息和治疗指导，治疗方法的简要总结，遗传模式，疾病频率（如果已知），非分子确认测试（如果可用），以及实验性治疗的链接。现有条目不断更新，并在文献中出现新的治疗方法时添加新条目。
More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care. Unfortunately, it can be challenging to find information concerning treatment for rare diseases as key details are scattered across a number of authoritative websites and numerous journal articles. The website and associated mobile device application described in this article begin to address this challenge by providing a convenient, readily available starting point to find treatment information. The site, Rx-genes.com (https://www.rx-genes.com/), is focused on those conditions where the treatment is directed against the mechanism of the disease and thereby alters the natural history of the disease. The website currently contains 633 disease entries that include references to disease information and treatment guidance, a brief summary of treatments, the inheritance pattern, a disease frequency (if known), nonmolecular confirmatory testing (if available), and a link to experimental treatments. Existing entries are continuously updated, and new entries are added as novel treatments appear in the literature.
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