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News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… treatment options can be tailored to the specific genes or pathways that are malfunctioning in each patient's cancer." …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… Specifically, Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects … with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… suggest that dogs and humans may have similar biological pathways that give rise to the range of differences in brain …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… Research . "These newly identified genes and genetic pathways in primary melanoma could give researchers new …
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
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… director and chief and senior investigator of NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
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.
… senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. "For NPC1 patients, gene therapy …