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News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… chronic periodontitis, a gum disease. In another study, John Harley, M.D., Ph.D., Bahram Namjou, M.D., and their team … disease risk, gene-disease associations, genetic variants, John Harley, Bahram Namjou, juvenile rheumatoid arthritis, …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… rare disease 35 years after it was first described by Dr. John Carey and colleagues from the University of Utah," said … Stephen Robertson, M.D., from the University of Otago and John Carey, M.D., at the University of Utah - analyzed exome … syndrome, CFZS, MYMK gene, myomaker, Dr. John Carey, Irini Manoli M.D. Ph.D., Moebius Syndrome …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… John Ohab … The National Human Genome Research Institute (NHGRI) …
Events
NHGRI sponsored the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting in Bethesda, Md, on August 30, 2016.
… Future of Genomic Medicine Implementation meeting at the John Edward Porter Neuroscience Research Center in Bethesda, … for future genomic medicine implementation program(s). … John Edward Porter Neuroscience Research Center (Building …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
Event
On October 29, 2021, NHGRI will host the Future Directions of the NHGRI Analysis, Visualization, and Informatics Lab-space (AnVIL) workshop to identify gaps, challenges and future opportunities related to NHGRI’s investments in the AnVIL’s cloud-based infrastructure, tools and services.
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Sites University of Southern California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology … Methods Review Co-chairs: Bogdan Pasanuic and John Witte Mission: The Methods Review WG will review and …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… Boston Children’s Hospital & Harvard Medical School   John Tisdale, M.D., National Heart, Lung, and Blood …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
The Genomics Landscape
In the November 4, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how NHGRI researchers are emphasizing the need for diversity in genomics.
… Boston Children’s Hospital & Harvard Medical School   John Tisdale, M.D., National Heart, Lung, and Blood …