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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 …
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 …
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** …
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 …
Health FAQ
Discuss these questions with your doctor or health care provider.
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … to fewer white blood cells, which puts you at a higher risk of serious infection. After the chemotherapy, you will …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Sickle cell disease is the most common inherited blood disorder in the … only a handful of options to manage or treat sickle cell disease.  Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than 50 …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant.  Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone …