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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too … damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … disease. Copper content of the liver is also measured. Genetic testing is frequently used to help diagnose Wilson …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… contribute to changes to the DNA sequence, also known as mutations. Imagine fishing tiles out of the bag in a Scrabble … a football field). While it’s always challenging to find mutations, tinier genomes are easier to scan for differences … the organism’s life.” The researchers first searched for mutations in mice that were bred to be genetically identical. …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These issues have … association studies (GWAS) reveal differences in apparent genetic effects across families and populations with …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… … The branch focuses on inherited and somatic (body cell) mutations that contribute to cancer susceptibility syndromes … gastric cancers. They also study the relationship between genetic variation and cancer progression and pursue the … primary focus of CGCGB investigators is to identify the genetic contribution to the processes of cancer …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … 11 that is affected). Chromosomes are packages of genetic characteristics. There are 22 pairs of chromosomes …
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… with ADHD. Research has shown that ADHD can have a genetic basis, which means that it is likely that a person … ADHD, Attention Span, Autism, Neurological Disorder, Genetic Disorder, Genetic Condition, Gene Mutation … Attention Deficit …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… and dynamic processes in general that may mediate genetic effects on traits? Advances in sequencing … or theoretically, for scalable approaches to map genetic effects on higher-order compositions of cells: … theory inform our understanding of how and why the genetic architecture of molecular level traits differ from …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Severe Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined … white blood cells of two young girls to compensate for the genetic mutation. These pioneering patients are still alive … severe combined immunodeficiency (XSCID) is caused by mutations in a gene on the X chromosome called IL2RG . This …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… Our research entails the functional annotation of somatic mutations in candidate driver genes previously identified by … and cellular approaches to functionally evaluate somatic mutations in the ALK2 (ACVR1) receptor tyrosine kinase. The goals are to discriminate driver mutations from passenger mutations and to assess the …