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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
Educational Resources
Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.
… likelihood that the individual will develop a particular disease. … Gene, Gene Environment Interaction, Inherited, Risk … Susceptibility, as related to genetics, refers to the … predisposed to, or sensitive to, developing a certain disease. An individual’s disease susceptibility is influenced …
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 …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …
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.
… definitively associated with the most common form of the disease. The panel’s results were published in the journal … for Emerging Centers in Fiscal Year 2020. …  Rare Disease Day is a worldwide observance that aims to raise … Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …
Talking Glossary
Environmental factors, as related to genetics, refers to exposures to substances (such as pesticides or industrial waste) where we live or work, behaviors (such as smoking or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism).
… as smoking or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism). … … or poor diet) that can increase an individual’s risk of disease or stressful situations (such as racism). Genetic …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… changed (or mutated), gives an individual an increased risk for developing cancer … A cancer-susceptibility gene is … changed (or mutated), gives an individual an increased risk for developing cancer. Individuals who have inherited … in certain cancer-susceptibility genes have a lifetime risk of cancer that is significantly higher than the general …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… (one from each parent) to cause the disorder. Huntington’s disease is an example of an autosomal dominant genetic …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … which vary among individuals. … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, … a genetic variation (allele) associated with a specific disease or trait. A carrier has inherited a normal and a variant allele for a disease- or trait-associated gene, one from each parent. Most …