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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 …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … using a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed …
Educational Resources
Dominant refers to the relationship between two versions of a gene.
… refers to the relationship between two versions of a gene. … Alleles, Family Health History, Genetics, Genetic Variation, Mutation, Ancestry … refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a …
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 …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… researchers have played key roles in a number of important gene discoveries, including the identification of genes … mouse with hereditary inclusion body myopathy, developing gene therapy approaches for X-linked severe combined … Genetic Condition, Rare Disease, Undiagnosed Disease, Gene Mutation, Gene Variation, DNA Sequencing, Clinical …
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 … in GTEx provides an unprecedented depth of genomic variation. It gives us unique insights into how people differ in gene expression in tissues and organs." NIH launched the GTEx …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene. … DNA Sequence, Genes, Family Health History, Genealogy, Gene Expression … imprinting is the process by which only one copy of a gene in an individual (either from their mother or their …
News Release
Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function.
… Researchers from the NHGRI-funded Impact of Genomic Variation on Function Consortium are exploring how genomic variation affects genome function. … To understand the functional effects of genomic variation, the National Human Genomic Research Institute … launched a consortium in 2021 called Impact of Genomic Variation on Function (IGVF) . The NHGRI-funded consortium …
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 …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple … with the variability of responses to medications due to variation in single genes. Pharmacogenetics takes into … and will be clones of the common ancestor bacterial cell. Gene cloning involves manipulations to make multiple …