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News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …
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 …
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 …
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 …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study found that having more than two copies of the TPSAB1 gene was associated with symptoms related to the … NHGRI researchers identified a person with a genomic variant associated with a known metabolic disorder. Further … researchers and their collaborators found that a genomic variant was associated with immune dysfunction at the …
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 …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… 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 … An oncogene is a mutated gene that contributes to the development of a cancer. …