Search Results
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
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.
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 …
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 …
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 …
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 …
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 …
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
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.