Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… Johnnie Oli Kwame Nkumrah University of Science and Technology, School of Medical Sciences, Kumasi, Ghana -- … Diabetes and Digestive and Kidney Diseases, the Center for Information Technology, and the NIH Office of the Director. For more information, visit: https://crggh.nih.gov/ The National Human …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… For example: NIH investments in genome sequencing technology have led to the costs of whole genome sequencing … than a couple of decades ago. Affordable sequencing technology is critical to the diagnosis of sickle cell … of the National Human Genome Research Institute … For more information, visit: Sickle cell disease gene therapy …
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.
… in the human genome. These studies provide more accurate information about the genomic variants within 622 medically … Green, M.D., Ph.D., director of NHGRI. “This foundational information will strengthen the many ongoing efforts to … Maryland; and the National Institute of Standards and Technology, Gaithersburg, Maryland. The package of six papers …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… diseases, NHGRI researchers used a labor-intensive technology to develop pluripotent stem cells (unspecialized … Gaucher disease. Neurons are nerve cells that transmit information via chemical messengers and electrical signals. … and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of Pre-Clinical … medicines for rare genetically inherited syndromes. Using information from molecular genetics Dr. Inglese's laboratory …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… … By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome … American countries, both clinically and by facial analysis technology, developed by Children's National Health System, … genetic syndromes around the globe using facial analysis technology. Image Credit: Darryl Leja, NHGRI. Williams-Beuren …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Paul Kruszka, et al. The researchers studied the clinical information of 106 participants and photographs of 101 … varied widely across the groups. Using facial analysis technology, the researchers compared a group of 156 … in Washington, D.C., developed the digital facial analysis technology used in the study. Researchers hope to further …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… These include broadly applicable areas, such as genomic technology development; using genomic information in patient care; and the ethical, legal, and … process. Recognizing the increasing role of genomic information in everyday life - from non-invasive prenatal …
News Release
NHGRI-funded researchers to be honored with Presidential Early Career Awards for Scientists and Engineers
… and show exceptional promise for leadership in science and technology. "NHGRI has consistently funded many of the best … those that provide meaningful scientific or clinical information, for further analysis including applications to …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… Research , the researchers reported that the gene-editing technology known as CRISPR/Cas9 is six times more effective … and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . … …