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- Developmental Genotype-Tissue Expression (dGTEx)1
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- Impact of Genomic Variation on Function (IGVF) Consortium3
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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.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. Credit: Harry Wedel, NHGRI. Researchers at the …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… Human Genome Research Institute (NHGRI), who analyzed gene activity of immune cells in children with mitochondrial … called single-cell RNA sequencing, which analyzes gene activity in different cell types, researchers studied … mitochondrial disorders … NIH researchers analyzed the gene activities of immune cells in children with …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Developmental biologists have been able to do single-cell gene expression profiling on whole tissues. If we apply those … do you see as the most exciting future opportunities in gene therapy? Bodine: When we founded the American Society …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most … SCT means that a person has inherited the sickle cell gene from a parent. … Related Content … Systematic review … at increased risk. … sickle cell trait, Vence Bonham, gene variant … Researchers have now identified three health …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… need to bind to specific enhancer sequences to express a gene. The researchers used new genomic techniques called …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… the largest sequenced-based analysis of microRNA expression in human pancreatic islets to date,” said Francis … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for … set the stage for understanding how microRNAs fine-tune gene expression in pancreatic islets and its implications for …
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.
… transporter as a regulator of the CLEAR gene network PB3384 Reuben M Buckley eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. PB1092 …
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
… means to study such a progression involves epigenetics -- gene expression changes caused by factors other than the DNA … attached to particular DNA sequences, usually parts of a gene. Attaching to these DNA regions effectively turns the …
Event
On October 25-29, 2022, 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.
… insights into the biological mechanisms underlying gene-by-smoking and gene-by-alcohol consumption interactions Prog Nbr 298 Amy … Extensive Differential cell type-specific gene expression and regulation by sex in human skeletal muscle …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… parts I liked best were the statistical parts of it — the gene discovery part. … Soo: What were some of the projects … that led to Mary-Claire King discovering the BRCA1 gene. I also worked with Henry Lynch to find genes associated … frequency of this rare cancer. We identified the first gene to cause carcinoid tumors in one family we studied. What …