Search Results
Health
GenomeEd is a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare professionals and educators.
… GenomeEd is a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare … including the ability to find resources that qualify for continuing education credits. GenomeEd is supported by …
Research Funding
The CEGS Program supports multi-investigator, interdisciplinary research teams who develop novel and innovative genomic research projects.
… in 2000 to stimulate the development of novel approaches for conducting biomedical research at genomic scale. CEGS … of investigators as well as substantial infrastructure. Centers are characterized by a high degree of novelty, very … science, genomic medicine, data science and computational genomics, as well as research that integrates across more …
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 … polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at … condition. This means that many people with ADPKD live for decades without developing symptoms of renal functional …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Introduction of this application system sets the stage for the network to advance its core mission: to diagnose … been described or are unrecognized forms of more common diseases. … The new system streamlines the application … 1-U01HG007703-01. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
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). … especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often affects … and their families travel to the NIH Clinical Center for evaluation in the NIH MINI Study (clinicaltrials.gov, …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might … genetic basis of a disease. "Will it be driven by common or rare variations?" he said. The paper stressed the …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… NHGRI. "The results have been amazing and life changing for these children and their families," said Daniel Kastner, … to the researchers. NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… in 2016. Dr. Adeyemo works on the genomics of complex disease, focusing on cardiometabolic disorders and complex … author of the papers describing: the first genome scan for obesity in an African population, the first genome-wide … time genetic risk variants have been reported for the common form of the nephrotic syndrome, which is the second …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… of Wisconsin in Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will … UDN also includes seven clinical sites at academic medical centers and at the NIH, as well as a coordinating center … be studied in zebrafish. The UDN is funded through the NIH Common Fund, which supports cross-cutting programs that are …
Event
Pre-application webinar on for the Molecular Phenotypes of Null Alleles in Cells (MorPhiC) data analysis validation centers funding opportunity announcement (FOA) on September 7, 2022.
… in Cells (MorPhiC) Phase I: Data Analysis and Validation Centers (U01 Clinical trials not allowed) RFA-HG-22-019 … … Institute (NHGRI) will host a pre-application webinar for the MorPhiC Data Analysis Validation Centers funding opportunity announcement (FOA) . NHGRI staff …