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 … being involved in research design, implementation, and analyses, not just providing advice and guidance.  Can I …  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that …
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 … between the American Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The … Journeys in Human Genetics and Genomics Colloquium … The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership …
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, …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Dr. Susan Persky is an associate investigator and head of the Health Communication and Behavior Unit. She also directs the Immersive Simulation … knowledge about common, complex health conditions like obesity and diabetes in interactions between healthcare … that providing information about genomic underpinnings of obesity risk can significantly reduce the extent to which …
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 states with ever increasing resolution and … vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how … Paris "AJ"          Assistant Professor, Epidemiology and Sociomedical Sciences Columbia University  Albert, Frank …
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 Genome … 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 - …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… of Ibadan in Nigeria. After a residency in pediatrics and genetics, he became a faculty member of the College of … author of the papers describing: the first genome scan for obesity in an African population, the first genome-wide … Cardiometabolic disorders, in particular hypertension, obesity and diabetes, are non-communicable conditions of …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… (SCID) may be best known from news stories and a movie in the 1980s about David, the Boy in the Bubble, … to life-threatening infections by viruses, bacteria and fungi. Because David's brother had died of the disease, … him with the capacity to fight infections on his own and thus free him from the bubble. Although a rare disease, …