Search Results
News Release
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… which genes and genomic variants are relevant to human disease. NHGRI established the ClinGen consortium in 2013 to … works to identify which genes are associated with disease and which variants in those genes are … technical standards on how to interpret and report genomic variant information and guidelines for studies that evaluate …
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 … NHGRI's Medical Genetics Branch and study co-author. "This discovery suggests a direction that can be explored for …
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 …
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). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… which genes and genomic variants play a role in human disease, enabling their use in genomic medicine and research. … about gene variants and their connections to health and disease. These experts then determine what each variant might mean for disease diagnosis and treatment. …
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 …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
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 …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… genes and genomic variants underlying human inherited disease across its full spectrum, including rare diseases … program targets the genomic bases of common, rare disease . A brief history of the sequencing program is … from other NIH institutes for work in particular disease areas. At present, the National Heart, Lung and Blood …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … contribute to increased risk or protect against the disease. The NIH awarded grants for using innovative new … NIH and its programs, visit www.nih.gov . NIH...Turning Discovery Into Health® … Datasets Open New Avenues for …