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Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
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 … Revisiting the Missing Heritability of Complex Diseases, Ten Years On … workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On, in Silver Spring, Maryland. …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
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 … model microbiome-associated conditions: preterm birth, inflammatory bowel disease (IBD) and prediabetes. The goal … opportunity for interventions to prevent premature birth. Inflammatory bowel disease and the loss of specific microbial …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
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 …
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 … non-obesity related FTO variants had potential ties to non-inflammatory disorders of the cervix and chronic … the IL5-IL13 gene were linked to a type of esophagitis, an inflammatory condition in the esophagus.  Genes that …
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.
… Many human diseases have a genetic component. Some of these conditions … This list of genetic, orphan and rare diseases is provided for informational purposes only and is … set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
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.
… large effects on an individual's risk for developing rare diseases. These same approaches might help researchers identify variants that affect complex diseases such as cancer and cardiovascular disease. The … variants," Dr. MacArthur said. "We don't know enough about diseases and variants yet. We called for more rigorous …