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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
15 Ways Genomics Influences Our World
Genomics helps us understand evolution and protect our biological ecosystems.
… important things about evolution. … Scientists can now use information about short stretches of DNA that are unique to … Life  or see international barcoding  efforts. For more information about seafood, the FDA maintains The Seafood …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Sequencing a newborn's genome could provide more health information than the current panel of tests, and could … an individual's lifetime of medical care, providing early information on both treatable childhood diseases and … clinical care? What if the genome sequence reveals information about untreatable diseases, or even conditions …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family … diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… about the health history of your family and sharing this information with your health care provider can help you learn … called "pharmacogenetics" and "pharmagenomics." For more information about Pharmacogenetics and Pharmacogenomics go … treatment. … Some people have concerns about using genetic information in the treatment of disease. These concerns …
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.
… by environmental factors is mesothelioma (See: General Information About Malignant Mesothelioma [cancer.gov]), which … patients and their families with timely and reliable information, ORDR and NHGRI have created the online Genetic and Rare Diseases (GARD) Information Cente r. Users can also contact GARD's …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… of the As, Ts, Cs and Gs determines the meaning of the information encoded in that part of the DNA molecule just as … genome. With its four-letter language, DNA contains the information needed to build the entire human body. A gene … messenger molecules. Specifically, an enzyme copies the information in a gene's DNA into a molecule called messenger …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… and Sharing : Metadata  are “data that provide additional information intended to make scientific data interpretable … of the dataset, rather than a comprehensive set of information to make the shared data more useful to secondary … Director. Here are some useful links with additional information that may help you to get started: BioPortal  is a …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… not a PRNP  mutation will lead to certain symptoms. This information opens up more questions, but it also points to … State Action Center NIH - Genetic and Rare Diseases Information Center Resources for Educators Career Profile: … for Healthcare Providers NIH - Genetic and Rare Diseases Information Center NIH -  Undiagnosed Disease Network (UDN) …
Infographic
Among the 24 chromosomes that make up the human genome, the Y chromosome is unique for its highly repetitive structure. Scientists are studying the Y and its unusual features to better understand human health and disease.
… passed down from male parent to male offspring, so the information on the Y chromosome can more speci cally …