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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
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… shows 70% of people who use the workbook discuss their disease risks and health history with family members. … … have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since …
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 …
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
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first comprehensive review of … for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of evidence of …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. Various direct-to-consumer companies are making these … Polygenic risk scores report an estimate of the measure of disease risk based on the predicted combined effects of small …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to … linked to oxygen drops during sleep Schizophrenia risk gene linked to cognitive deficits in mice Scientists …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… have found that being a carrier for sickle cell disease, known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse … that may not traditionally be associated with sickle cell disease. The study provides estimated clinical risks for …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … animation depicting specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …