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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 …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
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
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 …