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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… The Human Genome Project (HGP) is one of the greatest scientific … in October 1990 and completed in April 2003, the Human Genome Project’s signature accomplishment – generating … team of researchers looking to sequence and map all the genes of our species. … The Human Genome Project was an …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences … among the most common questions that humans ponder. The Human Genome Project produced a reference human genome …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … early interventions and provide better medical care. "Human malformation syndromes appear different in different …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… six new awards fund research to explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … Anastasia Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … and diabetes. See: Leading Causes of Death [cdc.gov]). All human beings are 99.9 percent identical in their genetic …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… (UDP) was organized and established by the National Human Genome Research Institute (NHGRI), the National … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … to the work were researchers from the National Human Genome Research Institute (NHGRI), the National … affecting the whole body are caused by mutations in genes like OTULIN that are part of a person's innate immunity …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and … or other methods. All federally-funded research with human participants such as that supported by NIH must comply … variation, to identify the genetic underpinnings of disease, and to research how genomics can be applied in the …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. … Candidate, … is a laboratory approach used to locate the position of a disease-associated gene on a chromosome. Such a strategy can … known about the role of the gene’s encoded protein in the disease. The technique typically relies on the use of known …