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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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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 …
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 …
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
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
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve … hope to reach this goal by combining a patient's data and disease characteristics with his or her genomic information …
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.
… the discovery of gene function and the identification of disease genes in humans, according to scientists at the … on analyzing proteins or have been identified as possible disease genes, but the functions of those genes have not been … the discovery of gene function and the identification of disease genes in humans. … Zebrafish, genome function, 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 aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … 4 million newborns worldwide. The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient …  … For almost 30 years the focus of the Inflammatory Disease Section (IDS) has been the identification of genes … of these insights to the diagnosis and treatment of human disease. Stimulated by a chance encounter with a patient with …