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Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… clinical trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… field of genomics.  … In December 2018, the U.S. Food and Drug Administration (FDA) announced  that they were … particularly to diagnose inherited disorders and to target drug therapy in cancer. However, more robust aggregation of … for Disease Control and Prevention and the U.S. Food and Drug Administration. For more information on Dr. Byrnes and …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… lose weight, may also help in lowering cholesterol levels. Drug therapy is usually necessary in combination with diet, … their significantly elevated levels of cholesterol. Often drug therapies are not sufficient to lower LDL cholesterol …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… had little effect on the patients, one biological drug called tocilizumab did. Tocilizumab, a drug that suppresses the immune system, reduced the severity …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… inflammation and wound healing. The work also identified a drug that targets an important feedback loop controlled by … the researchers treated the patients with a JAK-inhibiting drug called ruxolitinib, the patients’ rashes and ulcers …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
Policy Issues
Las pruebas genéticas se están convirtiendo en algo más común en la práctica clÃnica.
… … La Administración de Alimentos y Medicamentos ( Food and Drug Administration , FDA) de EE.UU. tiene la autoridad de … de Alimentos, Medicamentos y Cosméticos ( Federal Food, Drug, and Cosmetic Act ). El hecho de que la FDA regule o no … medicamento bajo investigación  ( Investigational New Drug , IND), está diseñada para asegurar que haya una …
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
… utilization of genomic information in nursing healthcare delivery are recommended. Because assets and needs are so …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… competency: Apply quality improvement principles in delivery of genomics nursing care.  Courses in which this …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… milestone for progeria research, as the U.S. Food and Drug Administration approved the first treatment for progeria in November 2020, a drug called lonafarnib. The drug therapy provides some life extension, but it is not a …