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News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource … It gives us unique insights into how people differ in gene expression in tissues and organs." NIH launched the GTEx … for scientists to study how genomic variants may affect gene activity and disease susceptibility. Investigators are …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… of Health researchers have identified a novel role for a gene known as heat shock protein 60 ( Hsp60 ), finding that … "This study proposes an unusual role for a well-known gene," said Shawn Burgess, Ph.D., head of NHGRI's … today in the journal npj Regenerative Medicine . "This gene is found in every organism from bacteria to man. We have …
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… attempted at this time, but that studies that would make gene therapy  safe and effective should continue. 1 , 2  Most … in December 2015 with the International Summit on Human Gene Editing  in Washington, DC. For more information on this …
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
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), …
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 …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… targets. Although excitement about the potential for gene therapy has grown tremendously since the discovery of CRISPR, … physicians might eventually be able to prescribe targeted gene therapy to make corrections to patient genomes and …
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.
… 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 …