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News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… to catalog how genomic variation influences how genes are turned off and on. "GTEx was unique because its … explored how genomic variation affects the expression of genes in individual tissues, across many individuals, and … Quantitative Trait Loci (eQTL) work to control how genes are turned off and on. Photo credit: Darryl Leja, NHGRI …
News Release
Scientists are using an exciting gene editing tool called CRISPR/Cas9 to protect plants from harmful DNA viruses, strengthening the plant's protections.
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to … However, these studies lack information at the level of genes and how they might influence cell function and give … technique called RNA sequencing to probe how specific genes are turned on or off, also known as gene expression . …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… database to help researchers explore the locations of genes across the immense human genome sequence. Dr. Birney … of the completion of the Human Genome Project. As genes were identified, the Ensembl Project researchers would document the location of these genes in the human genome sequence. This process was …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… the stunning breakthroughs in understanding the impact genes play on heredity, disease and behavior. … The Gene: An …
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 struggled to know which of these … their own evidence - and expertise - for when and how genes and variants impact disease, this has also led to …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and … were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for improving the … and some blood cancers. Other patients had mutations in genes of the MAPK pathway, which controls cell growth and …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente.
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … y físicas observables. … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.