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Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Genes, Cancer, Heart Disease, Gene-environment Interactions … that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… The project will increase our understanding of how gene expression is regulated over time. … of high-quality tissue samples and information on gene expression — important resources that scientists needed … It also established a resource for researchers to explore gene expression in many different tissues to understand the …
Outreach
National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.
… the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. … completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human … the completion of the human genome project in 2003 and the discovery of the double helix in 1953. DNA Day’s mission …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were … and canker sores. The strongest association was with the gene IL12A , which encodes an inflammation-related protein …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is a collection of all the gene readouts present in a cell. There are various kinds of …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… and self-sustained network that fosters scientific discovery and provides expert diagnostic services for … ​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat … ​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat …
Educational Resources
Codominance is a relationship between two versions of a gene.
… Codominance is a relationship between two versions of a gene. … of inheritance in which two versions (alleles) of the same gene are expressed separately to yield different traits in an … Codominance is a relationship between two versions of a gene. …
Educational Resources
Transcription is the process of making an RNA copy of a gene sequence.
… Transcription is the process of making an RNA copy of a gene sequence. … Cell, Cytoplasm, Deoxyribonucleic Acid (DNA), Gene, Gene Expression, Messenger RNA (mRNA), Nuclear Membrane, … to genomics, is the process of making an RNA copy of a gene’s DNA sequence. This copy, called messenger RNA (mRNA), …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo Manuel de Villena, Ph.D., at …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …