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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
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of …
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 …
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 …
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 …
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 …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as height. How … the genomes of thousands of people with and without a disease or trait are compared to find the chromosomal regions …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** …
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 …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … moved to a protective room in the hospital to reduce your risk of infection. Medical staff will monitor you closely …