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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
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
Event
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… Applications of Ancient and Historical DNA to Modern Diseases 11:50 a.m. Audience Q&A 11:55 a.m. Closing … María Associate Professor, International Laboratory for Human Genome Research Universidad Nacional Autónoma de México … Raghavan, Maanasa Assistant Professor, Department of Human Genetics & Committee on Genetics, Genomics, and Systems …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, … arthritis. … Improved Understanding of Autoimmune Diseases The senior author of the paper, John J. O'Shea, … Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute (NHGRI). Autoimmune diseases …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions … by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and is …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… linked by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI), part of the National … M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … think may suggest a possible mechanism for how the human disease occurs. … Kastner and his team worked to find a …
15 Ways Genomics Influences Our World
Genomics is helping us understand what makes each of us different and what makes us the same.
… what you look like and what your risk might be for various diseases. But your genome doesn't entirely define you. Well before the completion of the Human Genome Project, researchers began developing tools to … people. When scientists agreed to use the one "reference" human genome sequence generated by the Human Genome Project …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… disease in T-cells. T-cells play important roles in human immune response. The mutations resulted in an increased … M.D., senior author and investigator at the National Human Genome Research Institute. Related Resources Cytochrome … people's immune response. … Mitochondrial disease, human immune response, Peter McGuire M.D. … A new study …