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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. … Improved Understanding of … 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 …
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.
… is by no means comprehensive. … 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 … Genome Research Institute.​​ ​ … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list …
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 …
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 …
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 aging. … 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 …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… These variants may point to the cause of the patient's disease. In an NHGRI-funded study published in the NEJM last … year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The technique has … in a host of diseases, including Charcot-Marie-Tooth disease, mental disability, other neuropathies, metabolic …
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 … …
Educational Resources
Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections, and loss of salt in sweat.
… Cystic Fibrosis (CF) … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing … infections, and loss of salt in sweat. … Hereditary Disease, Family Health History, Gene, CFTR … Cystic fibrosis … or 40s, or even longer. … Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing …
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.
… factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused … factors influence human traits, such as human health and disease. In many cases, the interaction of genes with the …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune … … Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells. T-cells play important roles in human …