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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… Ganguly, Ph.D. … This accomplishment opens a new era in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), have produced the …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Jeannine Mjoseth … Researchers at the National Human Genome Research Institute (NHGRI) and their … the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the …
About Genomics
February 15, 2021 marks the 20-year anniversary of publications reporting the draft human genome sequence.
… papers that revealed the first detailed look at the human genome's nearly complete sequence. A part of the Human Genome Project, these studies launched a new era … charts a thoughtful scientific journey for the future of genomics research. Reflecting on a detailed history that …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule … Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her … drug screening, researchers at NCATS Chemical Genomics Center evaluated hundreds of thousands of different …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown …
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 have a number of key genomic processes in common, reflecting their shared … and understand the human genome is through comparative genomics and studying model organisms," said Mark Gerstein, …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still … have implanted fetal tissue in rodents and non-human primates to better understand how to restore or replace …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… Eric Green, M.D., Ph.D. … The NHGRI 'Genomics 2020' strategic planning process is gaining … That event was extremely helpful in revealing some of the major issues that are on the minds of genome … FY 2018 Transition from Inclusion Management System to New Human Subjects System (HSS) as of June 9, 2018 Ruth L. …
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 … and accomplishments from the institute and the field of genomics. …  The International Common Disease Alliance …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… serve as President Biden’s science advisor and director of the White House Office of Science and Technology Policy … it live, the first seminar in the new Bold Predictions for Human Genomics by 2030 seminar series is now available for viewing. …