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- Genetic Architecture of Complex Traits1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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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 …
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 …
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 …
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 …
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. …
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 … National Cancer Institute (NCI) at the National Institutes of Health (NIH) and the Department of Health, Behavior 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 …
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 …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… (OXPHOS). OXPHOS occurs in microscopic factories in the cell called mitochondria and extracts energy from food … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …