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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.
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… disease in groups and the multifactorial causes of genetic diseases in populations. …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… undiagnosed illnesses - particularly rare childhood diseases - is moving from research laboratories into general … that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn't treat before," Dr. … causative or contributory gene variants in a host of diseases, including Charcot-Marie-Tooth disease, mental …
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News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… genetic architecture of different traits, conditions and diseases. They examine the genome in many different ways, and …
News Release
A new method of targeting specific DNA sequences in zebrafish could accelerate the discovery of gene function and the identification of disease genes in humans.
… to advances in our understanding of cancer and other human diseases," said NHGRI Director Eric Green, M.D., Ph.D. "We … of specific genes and the role they play in human genetic diseases." The CRISPR/Cas9 method of gene editing is one of … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …