Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … clinical trials, conduct of clinical trials of a drug to combat mitochondrial disease, determine the safety …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… evidence-based pharmacogenomic resources from the Food and Drug Administration (FDA), the Clinical Pharmacogenetics … safety of psychiatric medications as well as the impact of drug-drug interactions (phenoconversion) through case-based …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… genetic testing (DTC-GT). FDA = Food and Drug Administration; GAO = US Government Accountability … 2007: DTC-GT was offered at $1,000.  2010:  The Food and Drug Administration (FDA) initiated regulatory proceedings … clearance for a pharmacogenetics report for interpretive drug information for two medications — clopidogrel and …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… suggest that the dog is once again on the cusp of a cancer therapy breakthrough," the researchers wrote in the Molecular … relevant system in which to further develop BRAF -targeted therapy strategies," they added. Canine tumors carrying the … to combat BRAF -associated cancers and seeking ways around drug resistance. Moreover, "because of the very high …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… pre-approval access to a specific NHGRI investigational drug, for the treatment of an individual patient outside of a … condition and history, supports making the investigational drug available; Making the investigational drug available will not negatively impact or delay the …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… such as abdominal pain, diarrhea and rectal bleeding. Drug therapy for Crohn's disease includes: Anti-inflammation drugs … system suprressors, such as 6-mercaptopurine or a related drug, azothioprine. Infliximab (Remicade), a drug that is the …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… LDL cholesterol and/or early heart attack. Elevated and therapy-resistant levels of LDL in either or both parents. … lose weight, may also help in lowering cholesterol levels. Drug therapy is usually necessary in combination with diet, weight …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… defective gene, or correcting the defective protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great promise for life-saving treatment for CF … the cause of CF rather than just treating symptoms. Gene therapy for CF had its start in 1990, when scientists …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… itself is still risky and can result in death. Gene Therapy Offers Hope for a Cure Scientists are working to develop a gene therapy that may offer a cure for thalassemia. Such a … of all other cells in the blood. Another form of gene therapy could involve using drugs or other methods to …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… identifying the specific microbial population can guide therapy. In addition, the project aims to build a new IBD …