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Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, or an … V Leiden mutation are at somewhat higher than average risk for a type of clot that forms in large veins in the legs … A mutation in the factor V gene (F5) increases the risk of developing factor V Leiden thrombophilia. The protein …
Talking Glossary
Environmental factors, as related to genetics, refers to exposures to substances (such as pesticides or industrial waste) where we live or work, behaviors (such as smoking or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism).
… Environmental Factors … Environmental factors, as related to genetics, refers to exposures to … as smoking or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism). … risk of disease or stressful situations (such as racism). Genetic studies often take environmental factors into …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… M.D., Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in mice, … factor, Pamela Schwartzberg, vaccine development, genetic disease …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… Risk … Risk, in the context of genetics, refers to the probability … that an individual will be affected by a particular genetic disorder. … Risk, as related to genetics, refers to the probability that … individual will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental …
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and … to develop the disease. Both genetic and environmental factors, which includes social factors, such as smoking, lack … Genomic variants that increase risk of kidney disease are found in nearly one-third of West …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of … Genetic Epidemiology, Healthcare, Medicine, Population Genetics, Genetic Disease … Genetic epidemiology is a field of science focused on the …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… be used as a framework for publishing studies on polygenic risk scores. … to use a new approach for assessing a person's inherited risk for diseases like Type 2 diabetes, coronary heart … builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of improving … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… many of their genes, frequently coupled with environmental factors. Researchers are studying these changes to understand … in diseases across different populations. A “ polygenic risk score ” is one way by which people can learn about their risk of developing a disease, based on the total number of …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses. …