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.
… 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 defective and the cells do not release the chloride. The result is an …
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 …  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
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.
… 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 problems, and are at high risk for developing certain types of cancer, …
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.
… 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 … disease, hepatolenticular degeneration syndrome, WD and Wilson's disease. …
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 … Journeys in Human Genetics and Genomics Colloquium … The Journeys in Human Genetics and Genomics Colloquium is part of a training …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… aim to gauge if genomics can be used to help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. … three projects extend beyond the academic medical center and explore the use of genomic medicine in community-based …
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 … The branch focuses on inherited and somatic (body cell) mutations that contribute to cancer susceptibility syndromes and to the development of various aggressive cancers, …
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.
… Session 1 – Cells, Tissues, and Organs As we continue to catalog cell types and cell … vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how … of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies and …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to … HH, the mechanism for regulating iron absorption is faulty and the body absorbs too much iron. Over time - several years … to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease. The gene that …
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.
… July 2024 DNA Science and Human Genetics Lawrence Brody, Ph.D. National Human … July 2024 History of Genomics and the Human Genome Project Eric Green, M.D., Ph.D. … Reading Recommended Reading Human Genome Project And Its Impact On The Study Of Human Disease Book Chapter - …