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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 … Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published … Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
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 …
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 … This variability is influenced by the number of F5 gene mutations a person has, the presence of other gene …
News Release
Two grants will support studies on genomic literacy among Africans relating to research conducted in Africa by African investigators.
… $300,000 will support studies on genomic literacy among Africans as it relates to research conducted in Africa by … The three-year grants are part of the Human Heredity and Health in Africa (H3Africa) program, funded by the … consent form for a diabetes study that better relays genetic concepts in terms that people from both rural and …
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 …
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 … mutation in each copy of a gene called NGLY1 . Bertrand's mutations meant that he had no functioning copy of this gene, …
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 … new opportunities for genetic tests to predict, prevent and treat disease. Tests for breast cancer and for hereditary …
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 … of a trait can help us understand its evolution and underlying biology. For traits that are related to a …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in lung … number of possible therapeutic targets for this disease and potentially identify a greater number of patients with … we now have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI …