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NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… non-coding variants and genetic architecture influences immune cell function. Cliff Meyer, Dana-Farber Cancer … effects on cis-regulatory element activity in primary immune cells. They will assess putative causality through … develop computational methods to minimize the impact of system biases and off-target effects in single-cell CRISPR …
Fact Sheet
Viruses are bundles of genetic material wrapped in a protein coat that can infect living things.
… the probability and pace by which they evade the human immune system. In other cases, two different viruses interested in … proteins, the active component of the vaccine to which the immune system responds. When injected, these DNA or RNA …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… . Discuss it with your healthcare team and support system. Ask questions. If you still do not understand, either … 1 month Because the conditioning process will lower your immune system, you will be moved to a protective room in the … healthcare provider determines that your bone marrow and immune system have recovered, you may leave the hospital and …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… inflammation and tissue damage, affecting the nervous system, skin and joints. Affected individuals can eventually … a separate branch of immunity called the innate immune system. Therefore, it became clear that autoinflammatory …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… used to inappropriately group people into a hierarchical system to "establish and justify systems of power, privilege, … . Race has been used to group people into a hierarchical system that identifies, distinguishes and marginalizes some …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… human diseases, particularly those affecting the nervous, immune and musculoskeletal systems. As a major emphasis of …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… illnesses, proposed a now widely-accepted explanation for immune disorders, identified critical insights into innate … include discovering new molecules in the human innate immune system and providing important insights into their function; …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… disease. We evaluate their infection risk and immune function, and we document any complications that …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… an inflammation-related protein that is used by the immune system. The IL12A protein acts as an alarm for the immune system and prompts an inflammatory response by …
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
… habits and sleep patterns. Stress, its impact on the immune system and its role on disease risk is another important area … that the microbiome may change in response to the immune system and vice versa. In response, they propose a …