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- Multi-Omics for Health and Disease (Multi-Omics)1
- 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
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network, which establish … protocols and methodologies for improved genomic risk assessments for diverse populations and to integrate their … sites specifically focused on better understanding disease risk and susceptibility by combining genomic and …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… developed a new statistical model that can predict the risk for developing diseases by combining information from … The researchers used type 2 diabetes mellitus (T2D) as the disease model for their study. An estimated 30 million people … chronic diseases to treat. T2D is known as a complex disease because its development depends strongly on a …
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 … risk for diseases like Type 2 diabetes, coronary heart disease and breast cancer, which involves calculating a … by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working Group  and the Polygenic Score Catalog (PGS), …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities. Polygenic risk scores, often … the genomic data of people with and without a particular disease. The National Human Genome Research Institute …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … the genomes of thousands of people with and without a disease are compared to find the genomic regions containing variants that affect disease risk. Although GWAS may find hundreds of variants that appear …
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 …
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 …
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. …
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 …
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 …