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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during middle …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Genomic variants that cause common periodic fever have spread in … National Institutes of Health, determined that specific genomic variants that cause a disease called familial Mediterranean … About NHGRI and NIH … Genomic variation causing common autoinflammatory disease may …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… biologists, clinicians, bioinformatics specialists and others to provide expert advice on the future of its … the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … will let researchers correct the SCD mutation by removing and replacing it with a normal gene, while the second …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman genomes is critical to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… by which people can learn about their risk of developing a disease, based on the total number of changes related to the disease. … two classes: those that are associated with a single gene and those that are influenced by multiple genes and environmental factors. Many diseases fall on a spectrum …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… all applicants due to the complex nature of the body and the diseases being investigated. However, they do fully … goals of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the … clinical sites. The DMCC will also support Research Cores (genomic sequencing, model organisms screening center, …
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). … in microscopic factories in the cell called mitochondria and extracts energy from food and other sources. Because mitochondria are found in nearly … The Metabolism, Infection and Immunity (MINI) Section’s mission is to understand how …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … slowly replaces much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects approximately 400,000 people in the United …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary findings explained, eligible protocols, and services offered … Responsibilities as a PI, consent, type of data accepted, and how to apply …  How to send data, confirming preliminary results, and returning results … data for the presence of possible actionable secondary variants. Any secondary variants found in the research data …