Search Results
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
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 all genetic influences on the trait. This includes how many genes … Genetic architecture is the combined effect of all genetic …
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 … Several federal agencies regulate genetic tests: the Food and Drug Administration (FDA), the …
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 … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … A genetic map (also called a linkage map) shows the relative location of genetic markers (reflecting sites of genomic variants) on a … A genetic map is a type of chromosome map that shows the …
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 … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine … with DADA2 and other autoimmune and autoinflammatory diseases. Researchers published their findings in the April … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
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. … of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute and … technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
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 …