Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm [electronic resource] : The National Institutes of Health Undiagnosed Diseases Program Experience [plus supplemental information]

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Tác giả:

Ngôn ngữ: eng

Ký hiệu phân loại: 610 Medicine and health

Thông tin xuất bản: Berkeley, Calif. : Oak Ridge, Tenn. : Lawrence Berkeley National Laboratory ; Distributed by the Office of Scientific and Technical Information, U.S. Dept. of Energy, 2017

Mô tả vật lý: Size: Article No. 62 : , digital, PDF file.

Bộ sưu tập: Metadata

ID: 260498

Traditionally, the use of genomic information for personalized medical decisions relies on prior discovery and validation of genotype?phenotype associations. This approach constrains care for patients presenting with undescribed problems. The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) hypothesized that defining disease as maladaptation to an ecological niche allows delineation of a logical framework to diagnose and evaluate such patients. Herein, we present the philosophical bases, methodologies, and processes implemented by the NIH UDP. The NIH UDP incorporated use of the Human Phenotype Ontology, developed a genomic alignment strategy cognizant of parental genotypes, pursued agnostic biochemical analyses, implemented functional validation, and established virtual villages of global experts. This systematic approach provided a foundation for the diagnostic or non-diagnostic answers provided to patients and serves as a paradigm for scalable translational research.
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