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Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions … Panel discussion: A Historical Discussion on Eugenics and Genetic Testing/Screening Panelists: Rebecca Mueller … relevant to their lived experiences? How do we discuss genetic and genomic variation and its connections to health …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, or an … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … Factor V Leiden is the name of a genetic mutation that results in thrombophilia (increased …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with … the field. Less than a decade ago, women seeking prenatal genetic testing, such as for a condition like Down syndrome, … sequencing has allowed a totally new approach for prenatal genetic testing, at least for the initial screening test for …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … for all populations, the researchers recalibrated these genetic tests using ancestrally diverse genomic data. As …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… NIH study finds that failing to account for mixed genetic lineages could lead to inaccuracies. … accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome … treated as a genetically homogenous group in large-scale genetic studies, have clear evidence of mixed genetic …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of … experience, researchers think that different genetic mutations in FMO3 can influence the symptoms of the … (OMIM) [omim.org] An electronic catalog of human genes and genetic disorders, developed by the National Center for …
… Genetic Screening … Genetic screening is the process of testing a population for a genetic disease in order to identify a subgroup of people …
Educational Resources
A proband is an individual being studied or reported on.
… Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, Family History … A proband is an individual who is affected by a genetic condition or who is concerned they are at risk. … the first person in a family who brings the concern of a genetic disorder to the attention of healthcare professionals. …
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.
… 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 … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … screening involves testing to see if a person “carries” a genetic variation (allele) associated with a specific disease …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… Genetic Code … Genetic code refers to the instructions contained in a gene …