Search Results
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA … challenge has been establishing which genes and gene variants are relevant in disease. ClinGen was launched … As of February 1, 2019, ClinGen has classified 670 gene-disease pairs. ClinGen is primarily funded by the NHGRI, …
Educational Resources
Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule.
… Gene Expression … Gene expression is the process by which the information encoded in a gene is used to direct the assembly of a protein molecule. … Gene expression is the process by which the information encoded in a gene is turned into a function. This mostly occurs via the …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… Cancer-Susceptibility Gene … A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an … A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an … A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers of regulatory … in different cell fates or cell states. They use the gene expression and functional element data to construct gene regulatory network models, taking advantage of the …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… zebrafish could dramatically accelerate the discovery of gene function and the identification of disease genes in … of Genome Research , the researchers reported that the gene-editing technology known as CRISPR/Cas9 is six times … "It was shown about a year ago that CRISPR can knock out a gene quickly," said Shawn Burgess, Ph.D., a senior …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, … that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel … The researchers found that harmful variants in the CECR1 gene impede production of a protein vital to the integrity of …
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.
… awards emanate from the recently launched Genomics of Gene Regulation (GGR) program of the National Human Genome … disease." With these new grants, researchers will study gene networks and pathways in different systems in the body, … The resulting insights into the mechanisms controlling gene expression may ultimately lead to new avenues for …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… explores a range of diseases with the goal of: Undertaking variant discovery for enough different examples of disease … inherited diseases. Understand how best to design rare variant studies for common disease. Develop resources, … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, …
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.
… of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 … has no cure. The disease occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare … humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human … "Effective and safe gene therapies have the potential to dramatically reverse …