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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: …
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 …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… about 85 percent of their genes! By changing a single gene or multiple genes in a mouse, scientists can observe how … genomic basis of deafness.  … Scientists are developing gene therapies  - treatments involving genome editing - to … are two different categories of gene therapies: germline therapy and somatic therapy. Germline therapies change DNA in …
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. …