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 regulated, meaning that they go … claims of the seller. … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
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.
… issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently … percent of patients with Parkinson's disease carry a GBA1 mutation. Dr. Sidransky has conducted research on Gaucher … Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
Fact Sheets
A DNA microarray is a tool used to determine whether the DNA from a particular individual contains a mutation in genes.
… whether the DNA from a particular individual contains a mutation in genes. … Scientists know that a mutation - or alteration - in a particular gene's DNA may … breast and ovarian cancers. But there is not one specific mutation responsible for all of these cases. Researchers have …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive … graduate program that addresses the growing need for genetic counseling services. … The accelerated discovery of … has brought new and exciting challenges to the field of genetic counseling. The traditional emphasis of genetic …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… 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. … The …
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. … Genomic medicine has the … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
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 … efforts sometimes shrink the path for establishing the genetic basis for a rare condition from decades (and … over a year, but they finally learned that Bertrand had a mutation in each copy of a gene called NGLY1 . Bertrand's …
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 …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… we now have a comprehensive understanding of many of the genetic pathways that lead to cancers of the lung," said NCI … quite striking that we have now identified an actionable mutation in over 75 percent of patients with lung … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was …