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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- 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
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. …
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… Polygenic Risk Score (PRS) … A polygenic risk score (abbreviated PRS) uses genomic information alone … developing a particular medical condition. … A polygenic risk score (abbreviated PRS) uses genomic information alone …
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 …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Sally Adebamowo*, Michele Ramsay, Bamidele Tayo Polygenic Risk Score (PRS) Methods and Analysis for Populations of … Cohorts and Novel Methods to Improve Polygenic Risk Scores Massachusetts General Hospital Amit Khera … Minnesota Iftikhar Kullo*, Daniel Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel Hill …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… identified a treatment that significantly decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one … sequencing can transform the life of someone with a rare disease comes from Sonia Vallabh and Eric Minikel . After a …