Search Results
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 …
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.
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) that mapped the gene for FMF to chromosome … and the National Institute for Allergy and Infectious Diseases (NIAID). The IDS serves as a worldwide referral … and characterization of several new autoinflammatory diseases and a springboard for therapeutic trials.   IDS …