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- Developmental Genotype-Tissue Expression (dGTEx)1
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The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… large inventories of genomic variation, and assaying the expression of every gene in multiple tissues (including under many conditions and … to those related to DNA mapping, sequencing, genotyping, gene expression, synthetic DNA, and epigenetics. Recent …
News Release
Celebrating 30 years of genomics that has transformed our understanding of life and improved health.
… to understand the complex choreography involved in gene expression. The growing knowledge about the structure and …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… p.m. Prediction: The biological function(s) of every human gene will be known; for non-coding elements in the human … Institute video, Dr. Collins describes new study using gene base editing to treat progeria What a year it was for … science advances! Researchers use patients’ cells to test gene therapy for rare eye disease Notable accomplishments in …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… these regions, and identify the mechanisms used to change gene expression. The other awardee funded by NHGRI’s Extramural … in Sub-Saharan African Populations How Do You Toast a Gene Therapy Trial? With Tea A GPS-Like System for …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… and her research group identified mutations in the GBA1 gene as a risk factor for Parkinson’s disease by uncovering … Gaucher disease, which is caused by mutations in the same gene. The discovery of GBA1 mutations as a risk factor for … group that aimed to understand genome function and gene pathways in development and disease. His group was the …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… and approaches currently being developed, such as gene therapy and the use of small molecules. By improving our …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… one that covered about 99 percent of the genome's gene-containing regions and had an accuracy of 99.99 percent. … Coordinating Center for the Developmental Genotype-Tissue Expression Project Pediatric Biospecimen Procurement Center (BPC) supporting the Developmental Gene Expression (dGTEx) Project Advancing Genomic Medicine …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… with her then-boss Richard Maraia in studying a gene on human chromosome 7. This led to a publication on … the commercialization of promising advances, such as gene therapies, pharmaceutical drugs, novel technologies, … search by scientific area. … Genomics Research Gene therapy for rare eye disease safe but lacks efficacy in …
The Genomics Landscape
In the February 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Genome Statute and Legislation Database, which recently received a major revamp to help researchers, policy analysts, and the public more easily find state-level legislation related to genomics.
… into the many ways that people vary in their risk for and expression of diseases and traits. The presentations and …
News Release
On June 26, 2000, nearly 10 years into the 13-year project, President Bill Clinton announced an important milestone for the Human Genome Project at a major White House ceremony.