Search Results
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… atlas of human gene expression and catalog of trait loci to date. … ), GTEx will create a resource that researchers can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue … families make this project possible. The goal of GTEX is to increase our understanding of how changes in genes …
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 … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less severe NPC1 symptoms. … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… two leading scientists have sketched out what doctors need to know in order to use the new technology effectively. … Ph.D. "Its authors lay out an approach for physicians to follow when using these exciting new technologies." … implements technology to understand, diagnose and treat genomic and genetic diseases. The NHGRI Extramural Research …
News Release
Learn what happens when two genetic neighborhoods merge in brain tumor cells after a gene controlled by a gene-control switch turned on a cancer-growth gene.
… of loops, like those of a shoelace. Just as you learned to tie your shoes by forming separate "bunny ear" loops of string, your DNA forms many of these loops to create "genetic neighborhoods" within each bunny ear loop. … of brain tumor in adults, but these tumors are difficult to treat. The research team noticed that up to 80 percent of …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or questions to DemocratizingEd@mail.nih.gov . These educational materials … are for informational purposes only. They are meant to promote your general understanding of gene therapy for …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of … for isolating and studying many now impossible orhard-to-grow microorganisms implicated in health and disease, … Microbiome Project (HMP). The HMP is supported by the NIH Common Fund and coordinated by the National Human Genome …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… may not yet have jet packs or flying cars, but the ability to edit genomes precisely is now real. These new methods offer the ability to change the genome in a way that could be passed on for … be to "edit" that genome  - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. …
Staff
Dr. Simona Volpi is the deputy director of the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Dr. Volpi is the deputy director of the the Division of Genomic Medicine at the National Human Genome Research … a portfolio of extramural grants and contracts related to the Genotype-Tissue Expression (GTEx) Project as well as … interest includes pharmacogenomics, promoting access to genomic medicine and clinical evidence base for, and …
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 for finding potential disease-causing gene variants in undiagnosed patients. The … or bias - and takes about three hours per exome to analyze an individual's protein-coding genes. …
Genomics Teaching Tool
An activity that demonstrates how DNA can be isolated from a strawberry using common household items.
… DNA from strawberries is super easy, allowing you to learn about genomics. Join NHGRI Director Eric Green and … Jenny Montooth as they show you step-by-step how to extract DNA from strawberries using materials available in … Step-by-step instructions on how to extract DNA from a strawberry. …