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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 …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… also allowed them to study the response to liver-directed gene therapy and to compare the findings in patients after liver … tests presented in the study in the design of upcoming gene-based clinical trials that the lab has worked on for …
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.
… … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … Researchers at the National … that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … group looked into whether the gene variants known to be associated with those diseases were also present in people …
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 …
Educational Resources
A vector is any vehicle, often a virus or a plasmid that is used to ferry a desired DNA sequence into a host cell as part of a molecular cloning procedure.
… Vector … A vector is any vehicle, often a virus or a plasmid that is used to ferry a desired DNA … procedure. … Cell, Deoxyribonucleic Acid (DNA), Cloning, Virus, Plasmid, Yeast Artificial Chromosome (YAC), Genetic … to molecular biology, is a DNA molecule (often plasmid or virus) that is used as a vehicle to carry a particular DNA …
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 …
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 usually unaffected and are at risk for fragile X-associated tremor/ataxia syndrome (FXTAS). The fragile … treatment available for fragile X syndrome. Supportive therapy for children who have fragile X syndrome includes: …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… a rational approach to drug discovery and personalizing therapy. Oregon Health and Science University (OHSU), … on cellular phenotypes, protein make-up and gene expression readouts in cell lines. Broad Institute of … genes. Each perturbation will produce about 1,000 gene-expression readouts. By the project's end, Dr. Golub …
Policy Issues
Scientists have edited genomes for many years, but CRISPR technology has improved the speed, cost, accuracy, and efficiency of genome editing
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… will aid the development of new treatments, including gene therapy . … Scientists have had the knowledge and ability to … a simple technology with little assembly required. CRISPR associated DNA sequences were first observed in bacteria in …
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 …