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The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… Equity Fellowship Program in partnership with the Food and Drug Administration’s (FDA’s) Office of Minority Health and … medical product development processes that facilitate the delivery of drugs, biologics, and devices from the bench to …
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.
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.
… 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
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… evaluating insertion profiles of standard and novel gene delivery methods. A goal of this work is to find ways to …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… this hypothesis by adding 5-Azacytidine, a chemotherapy drug that disrupts formation of methyl tags, to glioma cells. …
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… Sponsors  FDA Investigator-Initiated Investigational New Drug (IND) Applications  Other Organizations Public …
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 …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… to survive childhood. But today, due to preventive drug treatment, improved medical care and aggressive … antibiotics, pain management and blood transfusions. A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. This … attacks of fever in 75 percent of patients who take the drug regularly, and over 90 percent of patients demonstrate a … every day is very important. If a patient stops taking the drug, an attack can occur within a couple of days. Since the …