Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also … They found that among the five genes, one - the ALDH1L1 gene - was also strongly associated with stroke in the Framingham study. When the gene is not working properly, it has been associated with a …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … the U.S. Food and Drug Administration (FDA) approved two gene therapies to treat sickle cell disease. More than 50 … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… a program to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene. The Molecular Phenotypes of Null Alleles in Cells … aims to systematically investigate the function of each gene through multiple phases that will each build upon the …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… Americans and others of African ancestry carry a genomic variant that increases their risk of obesity, a finding that … with genomic differences in the semaphorin-4D ( SEMA4D ) gene were about 6 pounds heavier than those without the … SEMA4D in obesity and obesity-related traits. (The SEMA4D gene plays a role in cell signaling, the immune response and …
News Release
NIH researchers have identified a gene that makes yeast resistant to a lethal toxin.
… Newly discovered gene helps some yeast endure toxins and can help scientists … this analysis, the researchers determined that the KTD1 gene provides resistance to the K28 toxin. “This gene has never been studied before,” said Sadhu. “Identifying …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … smoking affected the relationship between an individual's gene variants and their lipids. Lipids consist of low-density … African ancestry. This enabled researchers to find new gene regions associated with lipids that could not be found …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… … Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes. … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 gangliosidosis. A faulty gene halts a critical process Dr. Tifft, a geneticist at the …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Sequencing, Genome Sequencing, Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service is provided …