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Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… As the field of genomics advances, genetic and genomic tests are becoming more common in, and out of, the clinic. Yet most genetic tests today are not … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the Centers for Medicare and …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of … of a trait can help us understand its evolution and underlying biology. For traits that are related to a …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing admissions to undergo strategic planning and development. NHGRI wants to hear from you on the current needs and challenges associated with genetic counseling while we …
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 … or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Factor V … the most common inherited form of thrombophilia. Between 3 and 8 percent of the Caucasian (white) U.S. and European …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… it can be very difficult to develop a test to detect these mutations, because most large genes have many regions where … researchers believe that mutations in the genes BRCA1 and BRCA2 cause as many as 60 percent of all cases of hereditary breast and ovarian cancers. But there is not one specific mutation …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… at the National Human Genome Research Institute (NHGRI) and their collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement. … new opportunities for genetic tests to predict, prevent and treat disease. Tests for breast cancer and for hereditary …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … by the FDA . The ability to read the human genome quickly and cheaply has led to substantial advances in discovering … Matt Might and his family provide one such genome sequencing story. Matt …
Educational Resources
The Genetic Information Nondiscrimination Act (GINA) is federal legislation that makes it unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.
… Genetic Information Nondiscrimination Act (GINA) … The Genetic Information Nondiscrimination Act (GINA) is federal … to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, GINA, Federal …