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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall, Timothy; Valkanas, Elise; Bello, Christofer; Markello, Thomas; Adams, Christopher; Bone, William P; Brandt, Alexander J; Brazill, Jennifer M; Carmichael, Lynn; Davids, Mariska; Davis, Joie; Diaz-Perez, Zoraida; Draper, David; Elson, Jeremy; Flynn, Elise D; Godfrey, Rena; Groden, Catherine; Hsieh, Cheng-Kang; Fischer, Roxanne; Golas, Gretchen A; Guzman, Jessica; Huang, Yan; Kane, Megan S; Lee, Elizabeth; Li, Chong; Links, Amanda E; Maduro, Valerie; Malicdan, May Christine V; Malik, Fayeza S; Nehrebecky, Michele; Park, Joun; Pemberton, Paul; Schaffer, Katherine; Simeonov, Dimitre; Sincan, Murat; Smedley, Damian; Valivullah, Zaheer; Wahl, Colleen; Washington, Nicole; Wolfe, Lynne A; Xu, Karen; Zhu, Yi; Gahl, William A; Tifft, Cynthia J; Toro, Camillo; Adams, David R; He, Miao; Robinson, Peter N; Haendel, Melissa A; Zhai, R Grace.
Afiliação
  • Gall T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Valkanas E; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Bello C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Markello T; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Adams C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Bone WP; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Brandt AJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Brazill JM; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Carmichael L; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Davids M; Appistry, Inc., St. Louis, MO, United States.
  • Davis J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Diaz-Perez Z; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Draper D; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Elson J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Flynn ED; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Godfrey R; MicroSoft Research, Redmond, WA, United States.
  • Groden C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Hsieh CK; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Fischer R; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Golas GA; MicroSoft Research, Redmond, WA, United States.
  • Guzman J; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Kane MS; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Lee E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Li C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Maduro V; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Malik FS; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Park J; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Pemberton P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Schaffer K; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Simeonov D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Sincan M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Smedley D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Valivullah Z; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Wahl C; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Washington N; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Xu K; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States.
  • Zhu Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Gahl WA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Toro C; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States.
  • Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • He M; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Robinson PN; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
  • Haendel MA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
  • Zhai RG; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Front Med (Lausanne) ; 4: 62, 2017.
Article em En | MEDLINE | ID: mdl-28603714
ABSTRACT
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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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article