Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Educational Resources
Insertion is a type of mutation involving the addition of genetic material.
… Insertion is a type of mutation involving the addition of genetic material. … DNA Sequence, Base Pairs, Genetic Mutation … An insertion, as related to genomics, is a …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in … sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from … where they are required in order to digest food. … Mutations in a single gene - the Cystic Fibrosis …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… … Funding Opportunity Announcements ( RFA-HG-20-048 and RFA-HG-20-049 ) Can a genetic counselor consultant fulfill the need to have a … being involved in research design, implementation, and analyses, not just providing advice and guidance. Can I …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and …
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 … too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of … Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can lead to …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… need to create more DNA if you're going to make new cells, and you need to create more RNA for those cells to do their … for the work of cells.” Vitamins like vitamin B12 and folate are linked to creating the building blocks of DNA … contribute to changes to the DNA sequence, also known as mutations. Imagine fishing tiles out of the bag in a Scrabble …
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.
… forces that have shaped the number, frequency, and interactions of alleles influencing traits, and to identify potential levers of intervention to better … about how to identify and interpret the interplay of genetic and non-genetic factors on trait variation. These …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study … … 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 …
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 … Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic …
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.
… that affects a person's ability to control their behavior and pay attention to tasks. … ADHD has many causes. Among … that are needed for tasks such as sustaining attention and regulating activity levels. … Some children with ADHD may … with ADHD. Research has shown that ADHD can have a genetic basis, which means that it is likely that a person …