Search Results
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 … acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is …
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 … of the branch is to demonstrate that research findings and opportunities derived from genetic and genomic technologies may be translated into …
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 …
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
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 … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of …
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 on Genetic Counseling Processes and Practices FOAs …
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 genes that contribute to cancer susceptibility and progression. … The branch focuses on inherited and somatic (body cell) mutations that contribute to cancer … 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. … is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced their findings in the … everyone together. For example, when they looked at Africans or Asians separately, the facial analysis was more …
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 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 …