Search Results
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human … for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… An Atlas of Human Gene Expression The GTEx awards will contribute to a resource … in the DNA code - may influence gene activity and lead to disease. The grants will add data from analyses of tissue … a disease with those without the disease, establishing associations with particular variants and the disease being …
Educational Resources
Linkage is the close association of genes or other DNA sequences on the same chromosome.
Educational Resources
HapMap (short for "haplotype map") is the nickname of the International HapMap Project, an international project that seeks to relate variations in human DNA sequences with genes associated with health.
Timeline
A timeline highlighting key moments in the development of eugenics, with a focus on the American eugenics movement.
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Association, and Function in Human Health and Disease" was held on January 22-24. View the recording on … by discovering the basic defects in cystinosis, Salla disease, and infantile free sialic acid storage disease. He brought the cystine-depleting agent cysteamine, a …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Association, and Function in Human Health and Disease.” The workshop included valuable discussions about a … Association, and Function in Human Health and Disease Workshop” is available . Recent and upcoming NHGRI … the human microbiome are known to be associated with human disease. Understanding the nature and consequences of such …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… stop in pre-adolescence. Because of the nature of the disease, researchers have long thought that answers may lie … that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were …
Fact Sheets
Estimated cost of sequencing the human genome over time since the Human Genome Project.