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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 … related to blood clotting, and circumstantial risk factors, such as surgery, use of oral contraceptives and …
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, … 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 … TCF1 (for T cell factor-1) is essential for …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
RiskRisk, in the context of genetics, refers to the … that an individual will be affected by a particular genetic disorder. … Gene, Gene Environment Interaction, … they have been exposed to one or more environmental factors that promote the development of a certain disorder. … …
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 … is a field of science focused on the study of how genetic factors influence human traits, such as human health and …
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. … Scientists and healthcare providers are … builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published … smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since …
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 …
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 … changes related to the disease. … Researchers often divide genetic diseases into two classes: those that are associated …
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. … Genetics professionals are …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein … the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health.    … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …