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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
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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.
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
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
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 …
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.
… to advances in our understanding of cancer and other human diseases," said NHGRI Director Eric Green, M.D., Ph.D. "We … of specific genes and the role they play in human genetic diseases." The CRISPR/Cas9 method of gene editing is one of … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.