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Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … and families to better understand of how genes influence diseases and develop more effective diagnostics and …
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 … This list of genetic, orphan and rare diseases is provided for informational purposes only and is … set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… such as cancers, and autoimmune and cardiovascular diseases. Hence it is not surprising that the human … community to be able to study the microbiome in specific diseases and populations. The first phase of the project … analyze these microbial communities. Microbiome-associated diseases are usually not infectious, but have a proportion …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Improved Understanding of Autoimmune Diseases The senior author of the paper, John J. O'Shea, … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The lead author, Golnaz Vahedi, Ph.D., is a … Human Genome Research Institute (NHGRI). Autoimmune diseases occur when the immune system mistakenly attacks its …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… large effects on an individual's risk for developing rare diseases. These same approaches might help researchers identify variants that affect complex diseases such as cancer and cardiovascular disease. The … variants," Dr. MacArthur said. "We don't know enough about diseases and variants yet. We called for more rigorous …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.