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Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… (e.g., as articulated in an advance directive) and/or conditions that were described in a consent form, even after … from human subjects. IRBs can grant waivers when certain conditions are met, such as if the research poses minimal …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… personalized medicine and precision medicine. For some conditions, genomic information can be used to help diagnose …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.