Search Results
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed …
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 … ultra-rare disease, found in approximately 600 people in the world, were published in Blood Advances . … 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 … 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 relative locations of genes and other important features. … 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 …
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 … has brought new and exciting challenges to the field of genetic counseling. The traditional emphasis of genetic …
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).
… National Institutes of Health (NIH) researchers have identified a treatment that significantly 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 …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … Leading scientists across scientific institutions in the 19th and early 20th centuries were proponents of such …
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 …
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 … capacity to revolutionize clinical practice. The mapping of the human genome has created new opportunities for genetic tests to predict, prevent and treat disease. Tests …