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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 2021.
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… assist in these curation efforts. In December 2018, the FDA recognized ClinGen’s  hereditary germline variant … curation workflows, and maintain compliance as the first FDA-Recognized Human Genetic Variant Database. In addition to …
For Patients and Families
La farmacogenómica combina la ciencia de cómo funcionan los medicamentos, llamada farmacologÃa, con la ciencia del genoma humano, llamada genómica.
… HER2. La Administración de Alimentos y Medicamentos (FDA) de los EE. UU. también recomienda hacer pruebas … ajuste conforme a la composición genética del paciente. La FDA también aconseja a los médicos que evalúen a los … a fin de mejorar la salud humana. En el 2007, la FDA modificó la etiqueta de la warfarina (Coumadin®), un …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… and Blood Institute - Heath Disparities Outside the NIH FDA Office of Minority Health GHD Meeting Reports Inclusion …
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 2019.
… and ClinVar - Enabling Genomics in Precision Medicine FDA News Release Recognized Variants in ClinVar FDA Human Genetic Variant Databases 24 Clinical Sequence …
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
Staff
Dr. Sharon Milgram is an adjunct investigator in the Genetics and Molecular Biology Branch at the National Human Genome Research Institute.
… ] Smith PM, Cowan A, Milgram SL, White BA. Tissue-specific regulation by estrogen of ezrin and … E, Kultgen P, Barnes AP, Milgram S, and Stutts MJ. Local regulation of cystic fibrosis transmembrane regulator and …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… mice may help lead to human clinical trials and eventually FDA approval for gene therapy as a treatment for NPC1 …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… into federal law, the U.S. Food and Drug Administration (FDA) has approved more than 340 treatments for rare diseases. …