Search Results
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
News Release
The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine.
… Sheena Faherty, Ph.D. … The Human Genome Project has been awarded the 2017 Prince Mahidol … by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National … responsible for leading NIH's effort in the project. … The Human Genome Project, completed in 2003, was an …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Steven Benowitz … Researchers analyzing human, fly, and worm genomes have found that these species … and other biological processes vital to understanding human biology and disease. … The studies highlight the data … and the ENCODE Project, both supported by the National Human Genome Research Institute (NHGRI), part of the National …
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.
… identified and catalogued more species that reside on the human skin than has ever been possible, largely due to … these previously unknown species are the most abundant on human skin. The results appear in a new catalog, the Skin … in Nature Microbiology . Investigators at the National Human Genome Research Institute (NHGRI), European …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… understanding of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies … diseases and traits? What does this mean for understanding human biology as universal and for the generation of other … Program Director, Division of Genome Sciences National Human Genome Research Institute, NIH Ayroles, Julien …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
… about the role of viral infection and biomarkers of the immune system in people with mitochondrial disease by using the …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… workload credit for e-consult completed Geisinger Health System Geisinger uses an EHR-based tool called Ask-a-Doc to … … Explore This Page … On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up … Working Group … On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… The Human Genome Project (HGP) is one of the greatest scientific … in October 1990 and completed in April 2003, the Human Genome Project’s signature accomplishment – generating the first sequence of the human genome – provided fundamental information about the …
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.
… directs the production of a protein that is part of the system that regulates cell division. … BRCA1, BRCA2, Cancer, … directs the production of a protein that is part of the system that regulates cell division. … Educational Resources …