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Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… proposed the now widely accepted overarching concept of autoinflammatory disease to denote disorders of the … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) that mapped the gene for FMF to chromosome … syndrome), and proposed the now widely accepted concept of autoinflammatory disease to denote a broad group of innate …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … and families to better understand of how genes influence diseases and develop more effective diagnostics and …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Ave … Revisiting the Missing Heritability of Complex Diseases, Ten Years On … NHGRI sponsored the workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland. … On May …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is … MUMS National Parent-to-Parent Network Genetics and Rare Diseases Information Center Finding Reliable Health …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… arthritis. … Improved Understanding of Autoimmune Diseases The senior author of the paper, John J. O'Shea, … Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The lead author, Golnaz Vahedi, Ph.D., is a … Human Genome Research Institute (NHGRI). Autoimmune diseases occur when the immune system mistakenly attacks its …