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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 …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or … that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include …
Staff
Rebecca Hong is a scientific program analyst in the Policy and Program Analysis Branch at the National Human Genome Research Institute.
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… project management. The focus areas of her work are FDA regulation of genomic technologies and U.S. science policy … … Rebecca Hong, B.S. … Rebecca Hong, genomic policy, FDA regulation, genomic technology, legislation, AIDS research, … genome editing … Rebecca Hong, genomic policy, FDA regulation, genomic technology, legislation, AIDS research, …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… Oncogene … An oncogene is a mutated gene that contributes to the development of a cancer. … … Mutagen, Cancer, Cell, Mutation, Tumor Suppressor Gene … An oncogene is a mutated gene that has the potential to cause cancer. Before an …
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 …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the … also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. …
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, …
Educational Resources
Codominance is a relationship between two versions of a gene.
… … Codominance is a relationship between two versions of a gene. … Genes, Alleles, Recessive, Dominant, Family Health … 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 …
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. … Fragile X syndrome is the most common form of … 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 …
Educational Resources
An exon is the portion of a gene that codes for amino acids.
… Exon … An exon is the portion of a gene that codes for amino acids. … Intron, DNA Sequence, DNA … of exons and introns. … An exon is the portion of a gene that codes for amino acids. … Educational Resources …