Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- 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
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… participant in an investigation of the genetics of heart disease possesses a gene variant related to Alzheimer's disease. IFs are also called secondary findings. Anticipating … (meaning that there is an associated action to reduce the risk of a disease or to treat the disease) should be returne: …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… such as hair color, blood type and susceptibility to disease. Many chromosomes have two segments, called "arms," … are being duplicated. Other factors that can increase the risk of chromosome abnormalities are: Maternal Age: Women are … genetic material as they age. Older women are at higher risk of giving birth to babies with chromosome abnormalities …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… what dosage is most appropriate and if a patient is at risk for an adverse reaction.  Pharmacogenomics is part of … be most effective for that patient while minimizing the risk of an adverse reaction. … Who may benefit from … genomic variant in the HLA-B  gene are at a higher risk for a severe allergic reaction to abacavir , which is …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… DNA help to determine what you look like and what your risk might be for various diseases. But your genome doesn't … was previously thought to be responsible for a genetic disease. We would think a person with such a mutation should … and movie "The Elephant Man," is thought to have had a disease called Proteus syndrome, which causes overgrowth of …
Fact Sheets
DNA sequencing determines the order of the four chemical building blocks - called "bases" - that make up the DNA molecule.
… data can highlight changes in a gene that may cause disease. In the DNA double helix, the four chemical bases … about the role of inheritance in susceptibility to disease and in response to environmental influences. In … its use in screening newborns for disease and disease risk. Moreover, The Cancer Genome Atlas project, which is …
News Release
Experts from The NHGRI Dog Genome Project turned to Reddit to answer questions as part of an "Ask Me Anything".
… genomes of both dogs and humans contribute to health and disease. On November 2, 2017, experts from The NHGRI Dog … I think it would be great if I could purchase a certified "disease free" dog, or maybe this is not possible prior to … of our work involves identification of disease-causing or risk-associated variants for breed-specific diseases. While …
Fact Sheet
Ribonucleic acid (RNA) is an essential molecule that performs many roles in the cell, from carrying the instructions to make proteins to regulating genes.
… — like something in the environment or the presence a disease — can cause the cell to adjust which types of RNA it … and changes to these modifications have been linked to disease. Over 180 different RNA modifications have been … This includes using RNA as a biomarker , or indicator, of disease. Tests that look at RNA might help doctors detect a …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… should not be used for clinical reproductive purposes; the risk cannot be justified by the potential benefit. Some … when both prospective parents are homozygous  for a disease-causing variant (they both have two copies of the … so all of their children would be expected to have the disease); cases of polygenic disorders, which are influenced …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… can be altered in response to environmental exposures or disease. The first type of mark, called DNA methylation, … a disorder associated with body overgrowth and increased risk of cancer; Prader-Willi syndrome, associated with poor … factors (such as smoking, diet and infectious disease) can expose a person to pressures that prompt …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… could lead to some neurological diseases like Alzheimer disease, although we are still learning why. Here's another …