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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 …
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 …
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 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 …
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 …
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 …
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 …
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.
… The new Journeys in Human Genetics and Genomics Colloquium is part of a training partnership … between the American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium is to showcase the depth and breadth of exciting scientific, clinical, and societal …