Search Results
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 …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… the human genome, which resides in the cell’s nucleus, the mitochondrial genome is tiny, just 17,000 letters of DNA. … That way, when the researchers sequenced the rodents’ mitochondrial DNA, they would know they were looking at … mitochondria need to have a specific mutation to cause a disease.” Future studies are needed to look more directly at …
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 … to kidney failure. … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 …
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 …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were researchers from the … otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … especially how their function or malfunction may affect a disease condition. Investigation of gene function is a … which researchers will develop a pipeline of models for disease-causing mutations in a broad range of human genes. …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial diseases are a group of disorders caused by …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to … the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced … for exploring how the genome plays a role in human disease," said NHGRI Director Eric Green, M.D., Ph.D. "Our …