Search Results
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …
Culture
Work with a talented team, including world-class scientists at NHGRI. Share genomics and its discoveries with the community and the world.
… build you career and help bring the fruits of genomic discovery to people's lives. … At NHGRI, we make possible the … answering questions about how our DNA shapes health and disease. Our discoveries have changed the way researchers … within a learning organization centered on scientific discovery. As a part of the larger NIH community, you will …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… scientific process of using supporting evidence from one discovery to verify findings of another. Relate the …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … to find genetic variations associated with a particular disease. Once new genetic associations are identified, … Expression, Gene Variation, Personalized Medicine, Gene Variant … Genome-wide association studies involve scanning …
Outreach
National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.
… the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. … National DNA … completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human … the completion of the human genome project in 2003 and the discovery of the double helix in 1953. DNA Day’s mission …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… NHGRI researchers identified a person with a genomic variant associated with a known metabolic disorder. Further … researchers and their collaborators found that a genomic variant was associated with immune dysfunction at the … and the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While most differences in peoples' … to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. Understanding how genomic … world. The catalog more than doubles the number of known variant sites in the human genome, and can now be used in a …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research … but to fundamental new insights into blood vessel disease. In their study, which appears in the Feb. 19, 2014, … sequence of a third patient identified another harmful variant of CECR1 in addition to a small genomic deletion that …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … patient observations I made early in my career have led to discovery of these genomic mutations," said Dr. Carey, …