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©American College of Medical Genetics original research article The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
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Document Date: 2012-04-04 15:27:59


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Mensenkamp / Hellman / Santa Clara / Diego / Bethesda / Springfield / Valencia / Washington / DC / ACDC C / San Diego / /

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Agilent Technologies / Qiagen / Fleming / AMP / HP / Illumina Corporation / /

Country

United States / /

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USD / /

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Event

FDA Phase / /

Facility

National Center / American College of Medical Genetics / Children’s National Medical Center / The NHGRI Genomics Core laboratory / National Human Genome Research Institute / National Institute of Neurological Disorders / Bead Studio / Genome Studio / analyzed using Bead Studio / /

IndustryTerm

search facilities / healthcare professionals / genomic technologies / software program / pertinent imaging / healthcare / genomic technology / advance online publication / healthcare professionals participating / /

MedicalCondition

rare diseases / refined disease / JE / multiple myeloma / Fibromyalgia / myopathy / neurological disorders / amyotrophic lateral sclerosis / Pulmonary / ultrarare diseases / disorder / Chediak-Higashi syndrome / undiagnosed disease / mental retardation / hereditary / tumors / gastrointestinal disease / mystery disease / keratosis / chronic fatigue syndrome / progressive supranuclear palsy / ganglion / neurologic disorders / cleft palate / hemangiomas / diseases / Inborn Errors of Metabolism / deficiency / Infectious disease / disorders / spinocerebellar ataxia / spastic / Fanconi syndrome / undiagnosed disorders / distal myopathy / palsy / multisystem disorders / hereditary spastic paraplegia / sarcoidosis / neuromyelitis optica / MS / hearing loss / infectious agents / metabolic bone disorders / GM1 gangliosidosis / spinal muscular atrophy / disease / spastic paraplegia / rare disease / dysautonomia / ultra-rare diseases / cardiovascular disease / Other Genetic Disorders / undiagnosed diseases / pain / infectious diseases / hyperventilation / congenital disorder / syndrome / respiratory distress / /

Organization

American College of Medical Genetics / National Human Genome Research Institute / Institutional Review Board / National Institutes of Health Clinical Center on the Undiagnosed Diseases Program / office of Rare Diseases / NIH Clinical Center / National Center / National Institute of Neurological Disorders and Stroke / African Union / office of Rare Diseases Research / NIH Intramural Sequencing Center / Genetic and Rare Diseases Information Center / 1M Duo / NIH Office / National Institute of Health / NIH Undiagnosed Diseases Program / Intramural Sequencing Center / 4NIH Clinical Center / National Medical Center / NIH UDP / NHGRI Board of Scientific Counselors / External Advisory Board / Internal Advisory Board / /

Person

Catherine Groden / Thomas C. Markello / Camilo Toro / Dennis M.D. Landis / Sandra Yang / Cynthia J. Tifft / Rena Godfrey / Stephen Groft / William A. Gahl / Lynne Wolfe / Fred Gill / Richard Hess / Andrea Gropman / Murat Sincan / Gretchen Golas / James C. Mullikin / Cornelius F. Boerkoel / Roxanne Fischer / Tyler Mark Pierson / Hannah Carlson-Donohoe / Michele Nehrebecky / Karin Fuentes Fajardo / John Gallin / Anne Madeo / Colleen Wahl / David Adams / Jamie Teer / /

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Position

physician / RT / referring physician / forward for research / Major / Clinical Director / administrative assistant / full-time adult neurologist / part-time pediatric neurologist / Director of Intramural Research / Clinical Director and Deputy Clinical Director / assistant / and a research nurse / neurologist / Director / nurse / /

Product

Illumina Bead Array Platform / triad / OmniQuad / vitamin D / OmniQuad chips / adenosine / GAIIx / /

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DC / /

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Nebraska / Virginia / Washington / California / Maryland / Arkansas / /

Technology

OmniQuad chips / genotyping / stem cells / human genome / Genotype / recombination / Genomics / hybridization / Biotechnology / UDP / DNA sequencing / SNP / 1M Duo chips / /

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http /

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