The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
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- 作者：William A. Gahla ; John J. Mulvihilla ; b ; John.Mulvihill@nih.gov" class="auth_mail" title="E-mail the corresponding author ; Camilo Toroa ; Thomas C. Markelloa ; Anastasia L. Wisea ; Rachel B. Ramonic ; David R. Adamsa ; Cynthia J. Tiffta ; for Members of the UDN1
- 关键词：ACDC ; arterial calcification due to deficiency of CD73 ; ALP ; alkaline phosphatase ; DEXA ; dual-energy X-ray absorptiometry ; FGF23 ; fibroblast growth factor 23 ; GALNT3 ; polypeptide N-acetylgalactosaminyltransferase 3 ; HPO ; Human Phenotype Ontology ; IgA ; immunoglobulin A ; IgG ; immunoglobulin G ; IgM ; immunoglobulin M ; MRI ; magnetic resonance imaging ; MOGS-CDG ; mannosyl-oligosaccharide glycosidase-congenital disorder of glycosylation type IIb ; NHGRI ; National Human Genome Research Institute ; NIH ; Nat
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：April 2016
- 年：2016
- 卷：117
- 期：4
- 页码：393-400
- 全文大小：903 K
文摘
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In 7 years, NIH’s Undiagnosed Diseases Program saw 863 individuals, undiagnosed after thorough evaluation elsewhere.
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After record review, a one-week hospitalization included multiple consultations, targeted tests, and DNA sequencing.
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9 vignettes with 20 patients illustrate successful diagnoses including arterial calcification due to deficiency of CD73.
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The vignettes show relevance to common disorders, newly recognized disease mechanisms and the future of precision medicine.
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