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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.
… tend to occur together and are associated with a specific disease. … X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … tend to occur together and are associated with a specific disease. …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to be associated with long QT syndrome, a congenital heart condition that predisposes patients to dangerous … definitively associated with the most common form of the disease. The panel’s results were published in the journal …  Rare Disease Day is a worldwide observance that aims to raise …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… long-lasting antibodies that will defend the body against disease for years. Now, a team headed by scientists at the … factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream. TCF1 doesn't … Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in mice, we …
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.
… A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes …
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.
… yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to the development of a disease. Researchers don’t yet know if a change in a microbial community leads to a disease or if a microbial community changes in response to …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … risk factors helps us assess a person's susceptibility to disease. With further research on the associated biological … treatments to each individual." Identifying autoimmune disease susceptibility genes can be a challenge because in …
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.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … to implicate specific variants as having an effect on disease because there are millions of variants in the human …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … condition. Death occurs on average at age 13, usually from heart attack or stroke. In 2003, NHGRI researchers, together …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that provides … a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant applications …