The undiagnosed diseases program: Approach to diagnosis.
The undiagnosed diseases program: Approach to diagnosis.
复制标题
DOI：
10.3233/trd-190045
复制
发表时间：
2020-04-13
期刊：
影响因子：
--
通讯作者：
Tifft, Cynthia J
中科院分区：
文献类型：
--
作者：
Macnamara, Ellen F;D'Souza, Precilla;Tifft, Cynthia J
未确诊和罕见的疾病普遍存在，影响着全球数百万人。美国国立卫生研究院未诊断疾病计划（UDP）致力于实现对许多这些人的疾病机制的全面诊断和更好的理解。通过仔细审查记录，精心策划的住院评估，基因组测序和测试，以及使用配对计划等新兴策略，UDP成功地处理了这些高度选择性病例的近30%。虽然UDP过程建立在一套独特的资源基础上，但案例展示了遗传学专业人员在临床和研究环境中可以采取的步骤，以便为他们最具挑战性的病例做出诊断。
Undiagnosed and rare conditions are collectively common and affect millions of people worldwide. The NIH Undiagnosed Diseases Program (UDP) strives to achieve both a comprehensive diagnosis and a better understanding of the mechanisms of disease for many of these individuals. Through the careful review of records, a well-orchestrated inpatient evaluation, genomic sequencing and testing, and with the use of emerging strategies such as matchmaking programs, the UDP succeeds nearly 30 percent of the time for these highly selective cases. Although the UDP process is built on a unique set of resources, case examples demonstrate steps genetic professionals can take, in both clinical and research settings, to arrive at a diagnosis for their most challenging cases.