The National Institutes of Health undiagnosed diseases program

被引：45

作者：

Tifft, Cynthia J. ^{[1
,2
,3
]}

Adams, David R. ^{[1
,2
,3
]}

机构：

[1] NHGRI, NIH Undiagnosed Dis Program, Off Director, NIH Common Fund, Bethesda, MD 20892 USA

[2] NHGRI, Off Clin Director, NIH, Bethesda, MD 20892 USA

[3] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

CURRENT OPINION IN PEDIATRICS | 2014年 / 26卷 / 06期

关键词：

genome sequencing; phenotyping; undiagnosed diseases program;

D O I：

10.1097/MOP.0000000000000155

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Purpose of reviewTo review the approach to undiagnosed patients and results of the National Institutes of Health (NIH) undiagnosed diseases program (UDP), and discuss its benefits to patients, academic medical centers, and the greater scientific community.Recent findingsThe NIH UDP provides comprehensive and collaborative evaluations for patients with objective findings of disease whose diagnoses have long eluded the medical community. Intensive review of patient records, careful phenotyping, and new genomic technologies have resulted in the diagnosis of new and extremely rare conditions, expanded the phenotypes of rare disorders, and determined that symptoms are caused by more than one disorder in a family.SummaryMany children and adults with complex phenotypes remain undiagnosed despite years of searching. The most common undiagnosed disorders involve a neurologic phenotype. Comprehensive phenotyping and genomic analysis utilizing nuclear families can provide a diagnosis in some cases and provide good lead' candidate genes for others. A UDP can be important for patients, academic medical centers, the scientific community, and society.

引用

页码：626 / 633

页数：8

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