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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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.
… Green, M.D., Ph.D. … To productively use a long, blank (and boring) hallway near my office in Building 31 on the NIH … a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding … Ph.D., a genetic counselor at the National Human Genome Research Institute’s (NHGRI) Reverse Phenotyping Core …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the … announce the completion of a draft sequence of the human genome. The ceremony took place in the East Room of the White … politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Last month, Dr. Sara Hull (NHGRI Bioethics Core Director) and I answered questions about bioethics and genomics … up to the 30th anniversary of the launch of the Human Genome Project in October 2020. Check out the latest oral … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( lovotibeglogene autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of …
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 … throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to … disease. More than 50 scientists, physicians, patients and other experts worked together to develop content for the …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… to other peoples’ DNA.  There are multiple types of variants in human genomes, ranging from small differences to … subset of genomic variants contributes to human health and disease.  Researchers create reference human genome sequences to help detect genomic variants in each …
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.
… of Health researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among … by the National Human Genome Research Institute (NHGRI) and published in the journal Cell , involved citizen science …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… M.D., Ph.D. … As the summer heat bears down on the country and the battle against the COVID-19 pandemic continues, I … genomics: the 30th anniversary of the launch of the Human Genome Project in October 2020. To amplify that drumbeat, the … clinical data that are currently not consistently used for disease-risk assessment (particularly when focused on …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… Green, M.D., Ph.D. … Thirty years ago, today, the Human Genome Project (HGP) officially launched. I was there on the … with the Human Genome Project successfully completed and genomics maturing into a well-respected discipline. I am … the largest and most comprehensive catalog of genomic variants that affect gene expression produced to date. The …