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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.
… the discovery of gene function and the identification of disease genes in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National …
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.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … … The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice … Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … The term candidate gene refers to …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project utilizes a deliberative stakeholder-engagement approach to develop patient educational materials for sickle cell disease gene therapy.
… It is imperative that patients with sickle cell disease who are considering gene therapy fully understand the … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials …
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.
… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. … The UDP is part of the Undiagnosed Diseases Network …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… they continue to uncover millions of DNA differences in genes and the regions between the genes. But doctors have … researchers know little about their roles in health and disease. Clinicians and researchers hope to use information … ClinGen, launched in 2013, is funded by the National Human Genome Research Institute (NHGRI), with co-funding from …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … and bloodwork. …  … Today, gene therapy for sickle cell disease is considered experimental and only available to you … Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which … gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the … to catalog how genomic variation influences how genes are turned off and on. "GTEx was unique because its …