Search Results
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 …
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 …
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 …
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 …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
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 …
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 …
File
… and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education … in which ACMG has participated since the Food and Drug Administration (FDA) released its 2014 draft guidance …
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 …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… are in the process of running a clinical trial to test a drug that acts on the receptor. … Soo: What are you looking …