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Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … targets. Although excitement about the potential for gene therapy has grown tremendously since the discovery … genome are associated with disease risk. In the case of common diseases, such as diabetes, many genetic changes and …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD).  … A First-of-its-Kind Study CRISPR-Cas9 is a … that researchers have harnessed to explore two approaches for reducing the burden of the disease. The first approach … generation of therapies. Sickle cell disease is the most common inherited blood disorder in the United States, …
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.
… Finally, the 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. … numerous genomic variants that may play a role in human disease. However, there is limited information about how any … encompass five components: Functional Characterization Centers, Regulatory Network Projects, Mapping Centers, a Data …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… laboratory from Howard University and joined the Center for Research on Genomics and Global Health (CRGGH), National … Shriner D, Adeyemo A, Ramos E, Chen G, et al. Mapping of disease-association variants in admixed population. Genome … C. A novel approach for the simultaneous Analysis of common and rare variants in complex traits. Bioinform Biol …
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 … 940-949, 2019 Oct.  De Castro MJ,  Turner CE . Military genomics: a perspective on the successes and challenges of …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… Jie Zhou is a Data manager and SAS programmer at the Center for Research on Genomics and Global Health (CRGGH). She is a … Shriner D, Adeyemo A, Rotimi CN. Simultaneous Analysis of Common and Rare Variants in Complex Traits: Application to … with Metabolic Syndrome: Implications for Cardiovascular Disease Prevention. CVD Prev Control. 2010 Sep 1;5(3):75-80. …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… in the world. An important limitation to the field of genomics has been the limited degree to which this variation … in a key data base, ClinVar , as “likely pathogenic” are common, providing evidence against their clinical … the field. Geographical regions and populations of origin for H3Africa whole genome sequence (WGS) data. The size of …
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 …
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, … functional elements in the fruit fly and roundworm genomes for use by the research community. Such elements include … for years to come. NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… doctors and tests later, there was still no explanation for his symptoms, explained Dan Kastner, M.D., Ph.D., … of Intramural Research and head of the Inflammatory Disease Section at NHGRI.   From L to R: Dan Kastner, M.D., … Dr. Kastner. The team thought that one solution might be a common drug known as a tumor necrosis factor (TNF) inhibitor, …