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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
Event
This symposium highlights other collaborative efforts between NIH and Children's National, and address genomics and care of children with immunologic diseases.
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… Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? Coronavirus 2019 … implications of COVID-19 in individuals with mitochondrial disease or their family members are unknown. However, … with mitochondrial disease may be particularly at-risk for decline associated with infection. This study aims …
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… Alzheimer’s Disease Introduction 1 • Aging population. • AD is common … Pedigree of FAD -RO1. Major gene: APOE locus Major risk -, age -at -onset - determinant N either necessary nor … protein processing, inflammation and lipids Alzheimer’s Disease Introduction 4 • Aging population. • AD is common …
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… Genome Research September 8, 2014 Workshop “Wish List” Disease Gene and Variant Discovery, Across A rchitectures, … of Biology of Science of Effectiveness of Genomes Genomes Disease Medicine Healthcare Gold Genomes Methods Produce Gold … of people • Understanding the genomic variants influencing risk (or protection from ) these will provide insight into …
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… Genome Research Institute Acute Infection in Mitochondrial Disease Why are we doing this study? Coronavirus 2019 … implications of COVID-19 in individuals with mitochondrial disease or their family members are unknown. However, … with mitochondrial disease may be particularly at-risk for decline associated with infection. This study aims …
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… all organ systems, all peri- ods of life, and many disease entities. Medical genomics is the study of the genome … avail- able information to make a diagnosis or provide a risk assessment • Genetic counseling (as described below) for … a PhD Medical Geneticist may perform complex risk assessments and paternity and forensic computations. DELIVERY …
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… and certain metabolites in order to detect heritable disease- related genotypes, mutations, phenotypes or … for clinical purposes. Such purposes include predicting risk of disease, identifying carriers and establishing prenatal and …
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… processes often include educati on of patients about the risk s and benefits of genetic/genomic tests, including how … genomic medicine as a field; projects studying a specific disease or disease area would have to yield generalizable findings. …
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… molecular ly targeted therapy, or complex disease manage ment. The 6 originally funded groups have … at 7 IGNITE sites and affiliat es. These data showed that risk of major adverse cardiovascular events more than doubles … critically ill newborns . Proposed trials should include assessments of approaches for real world applications and …
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… Families SHARE Sharing Health Assessment and Risk Evaluation Risk checklist and calculator For Type 2 diabetes Heart Disease First degree relatives First degree relatives Second … Have any of your relatives been diagnosed with heart disease? If you checked more than 1relative you are at …