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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… Cancer Breast Cancer Prostate Cancer Type 2 Diabetes Heart Disease How to Use the Families SHARE Risk Algorithm  … Families SHARE Workbook: English Families … Haitian Creole  … Below are links to the Families SHARE disease risk worksheets. The worksheets will help you work …
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 … cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was … understanding of the effects of genomic variation on disease, researchers urge the need to include as many diverse …
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 … Gene Environment Interaction, Inherited, Susceptibility … Risk, as related to genetics, refers to the probability that … person’s genome and environmental exposures can influence risk. An individual’s risk may be higher because they inherit …
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.
… and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana and Nigeria. Their study … can significantly increase the risk of developing kidney disease. APOL1 is important for the immune system and …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… of genetic tests. Genetic tests can help to: Diagnose disease Identify gene changes that are responsible for an already diagnosed disease Determine the severity of a disease Guide doctors in … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies. … in the prevention and treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach has … approaches for using polygenic risk scores as a tool for disease prediction and, it is hoped, improved health … by variants in more than one gene), such as coronary heart disease, diabetes, and depression. Such methods take into …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … While patients with Gaucher disease are at increased risk for Parkinson's disease, the vast majority never develop …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction . The objectives of the meeting were: Review the state of science of polygenic risk scores and how it can be improved Examine other … integrated with genetic variant information in predicting risk Identify research directions in development and …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … and BRCA2 genes, in which certain mutations increase the risk for hereditary breast and ovarian cancers (See: Learning …