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News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, … processes vital to understanding human biology and disease. … for years to come. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
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 … Autosomal dominant 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
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and … of the genes to be definitively associated with the most common form of the disease. The work was funded by the National Human Genome … an electrocardiogram which measures the duration of time for the heart to relax after a heartbeat. In long QT …
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 … clinical investigation. These diseases are difficult for doctors to diagnose because they are rarely seen, have … been described or are unrecognized forms of more common diseases. …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… from home. If you are seeking some virtual connections to genomics, I would like to offer some “remote learning” … Director) and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . … Finally, the 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. …
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 systems that require a lot of energy. For example, pediatric mitochondrial disease often affects …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … Environment, Diabetes, and Kidney Disease: A Multi-Omics for Health and Disease Study Site Disease Study Site** … Zachariah, Ali Gharavi Columbia University Multi-Omics for Chronic Kidney Disease Disease Study Site Louise …
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. … 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 …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… associate professor in pediatrics and the interim director for precision medicine at the Uniformed Services University … NHGRI to direct its Reverse Phenotyping Core in the Center for Precision Health Research. He oversees the daily … or genome sequencing. These participants are consented for re-contact to allow participation in future research. …