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The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… Sequencing Project and NHGRI’s Encyclopedia of DNA Elements (ENCODE) Project . In the case of ENCODE, NISC’s … datasets that provided new insights about non-coding functional elements in the human genome. When significant interest in …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; … cells, the normal NPC1 gene was then able to make the functional NPC1 protein to correct the cell defects.  The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… the three species, the model organism ENCyclopedia Of DNA Elements (modENCODE) Consortium studied how gene expression … goal of modENCODE is to create a comprehensive catalog of functional elements in the fruit fly and roundworm genomes … Project, which is building a comprehensive catalog of functional elements in the human and mouse genomes. "The …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… live for decades without developing symptoms of renal functional decline. People who have ADPKD have renal cysts in …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… map of the functions of regulatory and non-regulatory gene elements. The IGVF consortium includes five components: functional characterization centers, regulatory network …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… which is part of the ENCODE, or ENCyclopedia Of DNA Elements, program supported by the National Human Genome … of Health. ENCODE is building a comprehensive catalog of functional elements in the human and mouse genomes. Such elements …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… said Mike Pazin, Ph.D., a program director in the Functional Analysis Program in NHGRI's Division of Genome … role in disease. Such regions likely contain gene-control elements that are altered by these variants, which increase … disease. "Knowing the interconnections of these regulatory elements is critical for understanding the genomic basis of …
Research Funding
A list of current and previous Centers of Excellence in Genomic Science (CEGS) grant awards.
… and gene expression as well as interrogation of the functional consequences of sequence variants at a scale and … RNAs, long noncoding RNA and a host of other regulatory elements such as enhancers and insulator regions. Critically, … and scalable technologies to generate, and assess the functional impact of, variants in human genes. In the first …
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… be well-justified. Can applicants propose to perform functional validation studies within their Mapping Centers? No. Functional validation and characterization are out of scope for this initiative. Candidate functional elements identified by Mapping Centers may be tested in later …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… initial catalog of yeast genes and to predict a new set of functional elements that play a role in regulating genome activity, not … NHGRI programs such as ENCODE (Encyclopedia of DNA Elements) and modENCODE (model organism Encyclopedia of DNA …