Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 … E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 … use clues in the human genome to discover new inflammatory syndrome … NIH researchers have discovered a new inflammatory …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… model may inform potential therapeutic options for Down syndrome. … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version … cognitive traits compared to a previously studied Down syndrome mouse model. The results of this study, published in …
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.
… 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 heart condition. However, … as having limited or disputed evidence for causing the syndrome. Their results were published in Circulation , the …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… DNA-editing method shows promise to treat mouse model of progeria In Broad Institute video, Dr. Collins describes new study using gene base editing to treat progeria What a year it was for science advances! Researchers … effects on the brain Trying to make sense of long COVID syndrome On NPR’s All Things Considered, Dr. Collins provides …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) … J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical … Paul S. Kruszka: Genetic Modifiers in Women with Turner Syndrome and Bicuspid Aortic Valve: Chromosomal Microarray …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… is a group of rare genetic conditions that include Noonan syndrome, Cardio-Facio-Cutaneous syndrome, Costello syndrome and Legius syndrome. Eight of 16 genes for epilepsy …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… and discovering the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome (TRAPS). Dr. Kastner has won numerous awards and …