Search Results
Jobs at NHGRI
NHGRI is seeking exceptional candidates for the position of Genetic Epidemiologist in the Division of Genomic Medicine (DGM). The division focuses on understanding how genomics contributes to human health and disease and how this knowledge can translate into improving the diagnosis, treatment, and prevention of disease.
… is seeking exceptional candidates for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). … understanding how genomics contributes to human health and disease and how this knowledge can translate into improving … and facilitating multi-disciplinary research to identify genetic contributions to human health and disease and use …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes … cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies … related to the features of the tumor, and the stage of the disease. Treatment may include surgery to remove the kidney, …
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 … is related to the presence, absence, or risk of a specific disease. Has having a specific genetic variant been …
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 … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …
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 disease and susceptibility genes made possible by 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 … for genetic tests to predict, prevent and treat disease. Tests for breast cancer and for hereditary forms of …
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 deaminase type … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
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 …