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Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is … MUMS National Parent-to-Parent Network Genetics and Rare Diseases Information Center Finding Reliable Health …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Ave … Revisiting the Missing Heritability of Complex Diseases, Ten Years On … NHGRI sponsored the workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland. … On May …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… arthritis. … 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 …
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 … Institute (NHGRI). … 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
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 …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
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 …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
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. … Genetic epidemiology is a …