Search Results
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new … world, were published in Blood Advances . … "The discovery of new genes associated with ECD provides hope for improving … institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common …
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… an inherited disease, characterized by recurrent attacks of fever, inflammation of the abdominal lining (peritonitis), … backgrounds, about 1 in 200 has FMF. The availability of genetic testing has helped identify numerous cases among … are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is …
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.
… (NHGRI) is seeking exceptional candidates for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). … prevention, and treatment of genetics of common, complex diseases. Application Deadline: March 8, 2024, or until …
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 … In Vitro Diagnostics Used for Diagnosing Germline Diseases … The FTC’s primary mission is to enforce Section 5 …
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 relative locations of genes and other important features. …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … groups. Life expectancy varies depending on how severe the OI is, ranging from very brief (lethal form, OI type II) to average. There are four well-known types of OI. These types are distinguished mostly by fracture …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… on resources from three outstanding research institutions, 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 … have collaborated to develop and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive …
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 …
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).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that … 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 …