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News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… curtail a gene's activities. Researchers identified two drug-metabolizing variants tied to three TPMT alleles. The …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… – two conditions where finding safe and effective drug treatments have been difficult. Because there are few … makeup helps determine how they will respond to certain drug treatments. In pharmacogenomics, information about a … makeup helps determine how they will respond to certain drug treatments. These projects build upon the first phase of …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
… to genomics: " pinpoint gene editing ," " a cancer drug's broad swipe ," and " gene therapy triumph ." Nature's …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… is regulated. Such insights could point to potential new drug targets. “Our study helps explain a much larger … discovered in the study may also have the potential to be drug targets to alter blood pressure.  Our study helps … studies have clinical relevance for finding new drug targets and are needed to discover more drug targets as …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… from generation to generation. Clinical trials of drugs: Drug testing includes classes of drugs that control symptoms, … found an effective way to slow or prevent the disease. The drug used by UC Irvine researchers to prevent the cell death … cancer in humans. This could speed up human trials of the drug in Huntington's disease patients. … The discovery of the …
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 …