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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.
… 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 … Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous system (the brain …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… "Effective and safe gene therapies have the potential to dramatically … But one prior study did find an association between AAV and the occurrence of liver cancer. The present research … not insert where it would elevate the expression of nearby genes and it did not cause liver cancer. The researchers …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… NIH-funded ClinGen panel also validates three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited … QT syndrome. Long QT syndrome is caused by mutations in genes that regulate the heart’s electrical activity. These …
Fact Sheet
Understanding gene therapy for sickle cell disease
… sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To … therapies, more than 50 scientists, physicians, patients and other experts worked together to develop content for the … is led by NHGRI in partnership with other organizations and individuals. This group met over the course of four …
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 … brain, which allows researchers to examine the structure and activation of brain areas. However, these studies lack … reflect differences in how the brain functions, such as in autism.” Importantly, the researchers found that these …
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.
… book by Siddhartha Mukherjee, M.D. The Gene aired April 7 and 14 at 8:00 p.m. ET. The series, based on Mukherjee’s … free, print-on-demand exhibit consists of graphic panels and interactive media. It can be adapted to a variety of … libraries, coffee shops, hospitals, transit hubs, museums and science centers. …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… variation leads to biological differences, like healthy and diseased states, across human tissues and cell types. … to catalog how genomic variation influences how genes are turned off and on. "GTEx was unique because its researchers explored how … Gene expression, gene traits, genomic variation and biological differences, Genotype-Tissue Expression, GTEx, …
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 and his colleagues began developing the Ensembl Project in … of the completion of the Human Genome Project. As genes were identified, the Ensembl Project researchers would …
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.
… has previously been adapted for use in many organisms, and this latest iteration develops gene-editing for use in … plant genomics is valuable for human nutrition and health. In addition to playing an essential role in our ecosystem, plants sustain our bodies and economies. Crop losses, particularly due to DNA plant …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… gene. Both inherited genetic diseases (e.g., hemophilia and sickle cell disease) and acquired disorders (e.g., leukemia) have been treated …