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- Ethical, Legal and Social Implications (ELSI) Research Program5
- 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 Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
An ancient, sexually transmitted dog cancer may provide insights into human cancers because of the similarities in the dog and human immune systems.
… transmitted dog cancer - that may provide insights into human cancers because of the similarities in the dog and human immune systems - has baffled researchers until now. Canine … modified so that it could escape the host dog's own immune system," said Elaine Ostrander, Ph.D., chief of the Cancer …
Educational Resources
A lymphocyte is a type of white blood cell that is part of the immune system.
… is a type of white blood cell that is part of the immune system. … Lymphocytes, White Blood Cell, Immune System … A lymphocyte is a type of white blood cell …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… An immune system protein is extremely adaptable. This flexibility has … a protein’s function. But researchers at the National Human Genome Research Institute (NHGRI), part of NIH, found … called PKR, which is found in nearly every cell in the human body. When cells become infected with a virus, PKR …
Event
On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems. Â
…  Genomic Medicine Implementation in the VA Healthcare System (15 min) Jason Vassy  Discussion (45 min) 1:10 p.m. … Group … On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) sponsored its 14th … Systems … On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we … how Inborn Errors of Metabolism affect the function of the immune system. … A Longitudinal Natural History Study of …
Event
On September 6, 2023, NHGRI hosts a pre-application webinar for the genomics-enabled learning health systems (gLHS) NOFOs.
… of genomic information in a virtuous learning health system cycle of implementation, evaluation, refinement and …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… future care. The new Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches … center, all of which have an operating learning health system. Each clinical site will propose a project that uses … in the Division of Genomic Medicine at the National Human Genome Research Institute (NHGRI), part of NIH. …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… Diseases). She started her own laboratory at the National Human Genome Research Institute at the end of 1997 and was … for understanding how hosts respond to pathogens and other immune challenges, such as vaccination.   Studies of human … into the mechanistic workings of lymphocytes in the immune system. Specific projects: Tec Kinases: Through the …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
… 1, 2020, marks the 30th anniversary of the launch of the Human Genome Project. NHGRI would like you to help us … feeling] about the launch of the Human Genome Project.  Francis Collins Eric Green  … To … When I first heard of the ambitious effort called the Human Genome Project, I was …  The Human Genome Project …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic … that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme … with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age …