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News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
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 … pharmacogenomic test results to select optimal medication therapy or adjust the doses of my patients’ medications?  In …
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 …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Last year ended with exciting news from the U.S. Food and Drug Administration (FDA), which approved two gene therapies …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
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 …
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 …
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 …
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, … their significantly elevated levels of cholesterol. Often drug therapies are not sufficient to lower LDL cholesterol …
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 …