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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- 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
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
…  Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … to using and developing drugs. Depending on your genetic makeup, some drugs may work more or less effectively …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in … ​ … Genomic Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… the fundamental mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted … researchers may be able to determine the specific genetic mutations (changes in gene sequence) that caused the … the fundamental mechanisms of inherited and acquired genetic disorders. Their goals include both discovering the …
News Release
My Family Health Portrait is a downloadable tool to complete a family health history on a personal computer.
… NHGRI, and other partners.​ ​ … family health history, genetic testing, ancestry, CDC , Surgeon General … My Family …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… changes related to the disease. … Researchers often divide genetic diseases into two classes: those that are associated … variants in a single gene. Cystic fibrosis, a progressive genetic disease that causes long-term lung infections and … Researchers put this information into a computer and use statistics to estimate how the collection of a person’s …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… testing is for those who have a family member with a genetic disorder. The results help to determine a person’s … testing is used to confirm or rule out a suspected genetic disorder. The results of a diagnostic test may help … tests for the biological father and mother to see what genetic variants they carry. The tests can help parents and …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.
… University of Wisconsin - Madison Megan Frone, M.S., CGC Genetic Counselor Clinical Genetics Branch, Division of … of Nottingham Nirupama Nini Shridhar, Ph.D., M.P.H. Genetic Services Specialist Washington State Department of …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. Today, Dr. McGuire is one … instability that is associated with a cluster of genetic diseases (including glutaric aciduria type I) known …
News Release
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome