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Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… more people. That's why at this time, the U.S. Food and Drug Administration (FDA) labeling for tamoxifen does not … Resources: The Mayo Clinic - Pharmacogenomics: The Right Drug, for the Right Patient, at the Right Dose Mount Sinai … Pharmacogenomics Implementation Consortium (CPIC®) - Gene/Drug Clinical Practice Guidelines PharmGKB: Knowledge Base on …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… between identifying this molecule and having an approved drug." Dr. Sidransky has conducted research on Gaucher … down cellular waste. In a process known as high-throughput drug screening, researchers at NCATS Chemical Genomics Center … see if it might be developed into an appropriate prototype drug for patients with Gaucher disease and Parkinson's …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… alterations in head and neck cancers, new potential drug targets  (2015)  TCGA study improves understanding of … r  (2014)  TCGA bladder cancer study reveals potential drug targets, similarities to several cancers r  (2014)  As … cancers  (2013)  TCGA researchers identify potential drug targets, markers for leukemia risk  (2013)  Study …
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.
… for the vast majority of rare diseases. The Orphan Drug Act of 1983 provides incentives for drug companies to develop treatments for rare diseases. In … the Act was signed into federal law, the U.S. Food and Drug Administration (FDA) has approved more than 340 …
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 …
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 …
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 …
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.