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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed … sketched out what doctors need to know in order to use the new technology effectively. … for physicians to follow when using these exciting new technologies." Several thousand physicians already have …
News Release
NIH submits new policy that requires all NIH-funded investigators who conduct sensitive, health-related research be issued Certificates of Confidentiality.
… privacy protections law for research participants. The new law specifically requires additional protections for … the National Institutes of Health (NIH) put forth a new policy which requires that all NIH-funded investigators … studies collecting sensitive data; however, under the new policy, as of October 1, 2017, NIH-funded researchers and …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… A new study by researchers at the National Human Genome … New study challenges gold standard for validating DNA … A new study by researchers at the National Human Genome … A new study by researchers at the National Human Genome …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of … the diagnosis, treatment and prevention of disease. The new program will be led by Leslie Biesecker, M.D., chief of … Research Program. Dr. Denny recently arrived at NIH as the new CEO of the All of Us  Research Program . The addition of …
The Genomics Landscape
In the February 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the new director of NHGRI's Division of Genome Sciences.
… Carolyn M. Hutter, Ph.D., has been selected as the new Director of NHGRI's Division of Genome Sciences . She … research focused on genome-wide association studies and gene-environment interactions for cancer and other complex … bioinformatics tools and clinical information is forging a new path for genomics and health. Identifying human genomic …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance where the expression of one gene is modified (e.g., masked, inhibited or suppressed) by …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating … napped, would be the culmination of a decade of work and a new life for someone with a devastating disease. Jojo was about to receive the first experimental gene therapy treatment for the rare disease, GM1 …
News
NHGRI launched a new round of strategic planning to establish a 2020 vision for genomics research that will accelerate scientific and medical breakthroughs.
… Human Genome Research Institute (NHGRI) today launched a new round of strategic planning that will establish a 2020 … areas of genomics that will expand the field into new frontiers and enable novel applications to human health … The process will culminate in the publication of the new strategic plan in October 2020 to commemorate the 30th …
The Genomics Landscape
In the September 2018 edition of The Genomics landscape, NHGRI Director Eric Green highlights five new educational videos that use poetry and dance.
… recently, this involved the production and release of five new educational videos. The origins of these new videos trace back to the collaboration between the … educational videos. This collaboration yielded five new videos, two of which use footage from the original …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… taking place in 2005 and 2009. After the last review, new core programs were added, including efforts to find … echoed this theme throughout the workshop. Disease Variant Discovery The morning of day one focused on the state of the … are rare and typically due to alterations in a single gene. The Centers for Mendelian Genomics have made …