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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 …
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 …
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
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… Prabarna Ganguly, Ph.D. … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new … statistical model that can predict the risk for developing diseases by combining information from family members about … disease risk assessment … Researchers at the National Human Genome Research Institute (NHGRI) have developed a new …
Media Advisory
On August 16-18, 2017, NIH hosted a workshop, "The Human Microbiome: Emerging Themes at the Horizon of the 21st Century."
… Advisory Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The ten-year, National Institutes … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April … Amanda Ombrello, M.D., a staff clinician at the National Human Genome Research Institute (NHGRI), part of NIH. "Since …