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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… of cardiopulmonary function in patients with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical … of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 David Bernard Vitamin B12-deficient mice … an Alloimmunization Susceptibility Locus in Sickle Cell Disease PB3447 Vence Bonham Democratizing Gene Therapy …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to treat other rare genetic disorders, such as Tay-Sachs disease — a fatal condition that similarly attacks the nerve …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… by the start of the second trimester, there is less risk of developing congenital disorders when chemotherapy is …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… those variants and how they contribute to human health and disease. Another big one for me was working with Svante …
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… to other aspects of human biology, such as cancer risk and severity. When researchers completed the first human …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… stop in pre-adolescence. Because of the nature of the disease, researchers have long thought that answers may lie … test for detecting PFAPA syndrome, which means the disease is usually underdiagnosed,” said Daniel Kastner, … the paper and NHGRI scientific director. “Identifying the disease has been mostly based on clinical history and depends …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and … normally associated with old age, including cardiovascular disease (heart attacks and strokes), hair loss, skeletal … "The fact that a single specific mutation causes the disease in nearly all affected children made us realize that …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… which in turn will empower genetic studies of human disease.” The now-complete human genome sequence will be … which in turn will empower genetic studies of human disease. The full sequencing builds upon the work of the … the way we think about human genomic variation, disease and evolution.” The cost of sequencing a human …