Search Results
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 …
Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… prominent in plants, although they can also cause genetic diseases in humans. Duplications have been an … mechanism in the evolution of the genomes of humans and other organisms. … Duplication is a type of mutation that …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… the National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) at the National Institutes of Health (NIH) and the Department of Health, Behavior and Society at the … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive …
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 …
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 …
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
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 …
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 …
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, …
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 … of their genetic profiles in regard to health insurance and employment. … Genetic Information Nondiscrimination Act, … genetic information, as it applies to health insurance and employment. These protections are intended to encourage …