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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … materials reflect the priorities and perspectives of both individuals living with sickle cell disease and the … gene therapy to understand the benefits and limitations of treatments so that they can make an informed decision on …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… Bay Area) were open-ended discussions about the future of genomics. We continue to build on what we learn from each … place on Wednesday, September 26, 2018 at Morehouse School of Medicine in Atlanta, Georgia, beginning at 9:30 a.m. … the experience of a patient with a previously undiagnosed disease; through genome sequencing, doctors discover a …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The Democratizing Education for Sickle Cell …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… to develop a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … linked to diabetes through a DNA-regulating gene in animal models One little girl’s story highlights the promise of …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… The primary mission of the Alliance of Genome Resources (Alliance), Model Organism Databases … the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… Prabarna Ganguly, Ph.D. … NHGRI-supported research of Hydractinia  could provide clues to human reproductive … like an unlikely study subject for researchers, but this animal has a rare ability – it can make eggs and sperm for … a surprisingly large number of genes that are like human disease genes, making it a useful animal model for studying …
Media Advisory
With the publication of 16 high-quality reference genomes from across vertebrates, the Vertebrate Genome Project establishes standards for biodiversity genomics and reports discoveries in comparative biology, conservation, and health research
… learn more about biodiversity, human health and disease. … The Vertebrate Genomes Project , part of the Genome 10K  Community of Scientists, today … … Vertebrate Genomes Project produces first set of 16 animal reference genomes … With the publication of 16 …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… The objectives of the meeting are to: Define currently available approaches … information in the diagnosis, prevention, and treatment of infectious diseases Examine obstacles and potential … Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data​​.
… data on gene expression, as well as surrogate markers of regulatory elements, in different cell fates or cell … element data to construct gene regulatory network models, taking advantage of the dynamics of the system as the … facilitate interpreting the phenotypic consequences (e.g. disease) of genetic variation, particularly in non-coding …