Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical …
News Release
April 25, 2023 marks the 20th anniversary of the completion of the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being celebrated as part of National DNA Day.
… DNA Day commemorates Human Genome Project’s completion and discovery of DNA’s double-helical structure. … the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being … the Human Genome Project and the 70th anniversary of the discovery of DNA’s double-helical structure, milestones being …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that the mutation profiles of … CCEC patients. They also uncovered mutations in the TAF1 gene, a gene that had not been previously implicated in CCEC. TAF1 … cancer (CCEC) tumors has identified mutations in the TAF1 gene. …
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.
… the information needed to build the entire human body. A gene traditionally refers to the unit of DNA that carries the … Specifically, an enzyme copies the information in a gene's DNA into a molecule called messenger ribonucleic acid … of all the bases in a large piece of DNA such as a gene, researchers need to read the sequence of overlapping …
Media Advisory
On April 25, 2023, NHGRI will host a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… Project’s completion and the 70th anniversary of the discovery of the DNA double helix. The event is free and open … the completion of the Human Genome Project in 2003 and the discovery of the double helix in 1953. During this special … Project’s completion and the 70th anniversary of the discovery of the DNA double helix. …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Educational Resources
A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family.
Event
On April 25, 2023, NHGRI hosted a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… Project’s completion and the 70th anniversary of the discovery of the DNA double helix. The symposium explored the … Project’s completion and the 70th anniversary of the discovery of the DNA double helix. … Project’s completion and the 70th anniversary of the discovery of the DNA double helix. …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… large scale changes such as duplications or deletions. Gene expression tests analyze mRNA and can identify over- or …