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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 … which are disorders generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… to a screeching halt? Changes in the DNA sequence (i.e., mutations ) can alter a protein’s shape, and this can change … protein in the immune system is particularly adaptable to mutations. “While mutations occur naturally across the genome … 400 variations of PKR by making specific changes to the gene’s DNA sequence. The researchers inserted the PKR …
Educational Resources
A genotype is an individual's collection of genes.
… BB, Bb, bb could be used to represent a given variant in a gene. Genotypes can also be represented by the actual DNA …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… Promoter … A promoter is a sequence of DNA needed to turn a gene on or off. … Deoxyribonucleic Acid (DNA), Enzyme, Gene, Gene Expression, Gene Regulation, Messenger RNA (mRNA), …
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).
… … Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple … and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple identical copies of a single gene from the same ancestor gene. Cloning an organism means …
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 … a “simple” genetic disease 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.
… Zisk … The project will increase our understanding of how gene expression is regulated over time. … Eleven years ago, … 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. … The human genome is made … 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 …
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 …