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National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2020.
… and Events Calendar 4 New Chief Executive Officer, NIH All of Us Research Program Selection of Dr. Joshua Denny as Chief Executive Officer of the All of … Gaucher disease discordant for Parkinsonism Pavan - NPC1 deficiency in mice is associated with fetal growth …
Archive
… Rapid, New Test Developed for Inherited Immune Deficiency … Archive …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… … Dr. Solomon earned his medical degree from Geisel School of Medicine at Dartmouth. He completed medical training in … his work focused on understanding the causes and biology of a number of congenital disorders as well as applying emerging …
Investigación ClÃnica
El Programa de Enfermedades No Diagnosticadas de los NIH brinda respuestas a pacientes con afecciones misteriosas que durante mucho tiempo han eludido el diagnóstico.
… The Undiagnosed Diseases Network 2014 July 21, 2014: One of a Kind: What would you do if your child has a condition … News, 60 Minutes May 7, 2012: Disease Detectives: Clinic of Last Resort WFTV-TV Orlando, FL March 8, 2012: Mysterious … brain lesions send Pasco County man to National Institutes of Health for answers Tampa Bay Times February 29, 2012: …
File
… OO , Okunola O , Alli O . Genetics Section - ‘Types of Inheritance’, ‘Autosomal Inheritance’, ‘Diagnosis of … with Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency -Affected Sibs. J Pediatr Hematol Oncol. 2020; … Hyperplasia and Glucose -6- Phosphate Dehydrogenase Deficiency in Rwanda. 64. Kholoussi NM, Hussen DF . New …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… The Natural History Study of Patients with GNE Myopathy collects genetic and medical … over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare … and do not produce enough ManNAc or sialic acid. This deficiency results in a decreased attachment of sialic acid …
Fact Sheets
​Un estudio de asociación en todo el genoma es un enfoque que incluye el escaneo o búsqueda rápida de marcadores en todos los conjuntos completos de ADN​. ​
… de la Biblioteca Nacional de Medicina ( National Library of Medicine ) del NIH, está creando bases de datos que pueda … denominado Base de datos de genotipo y fenotipo ( Database of Genotype and Phenotype , dbGaP). ¿Qué está haciendo el NIH … genoma? El NIH, la Foundation for the National Institutes of Health , P fizer Global Research & Development y otros …
Archive
… NIH researchers link enzyme deficiency with faulty DNA replication and cancer … Archive …
Policy Issues
El uso de seres humanos en las investigaciones biomédicas, clÃnicas y socioconductuales puede ofrecer entendimiento y descubrimientos que no pudieran obtenerse de ninguna otra manera.
… en Investigaciones ( Federal Policy for the Protection of Human Research Subjects ) o 'Regla Común'. Esta regulación … Nacional de IndÃgenas Norteamericanos ( National Congress of American Indians Policy Research Center ), en colaboración … en estudios de biomuestras (" Workshop on the Release of Research Results to Participants in Biospecimen Studies …
Policy Issues
Hay leyes y polÃticas que sirven para proteger la privacidad de la información genómica de un individuo.
… de la Oficina Federal de Investigaciones ( Federal Bureau of Investigation , FBI) para las bases de datos de ADN de la … en Investigaciones ( Federal Policy for the Protection of Human Subjects ), también conocida como la " Regla Común … en 1966, la Ley de Libertad de Información ( Freedom of Information Act , FOIA) fue la primera ley estadounidense …