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The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… This month, we travel to Boston, MA to hold a Town Hall in partnership with the Massachusetts General Hospital on … of the public. Specifically, the discussions will focus on genomic variation identification, association, and function in human health and disease. If you are in the Boston area, …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. … (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that … information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and … use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… complications. However, such special foods may cause harm in some patients when their use is not carefully monitored … including any associated long-term side effects, which may in turn result in the need to reformulate some medical foods. … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The … their expertise, infrastructure, systems, and technologies in genetics and genomics. The summit, which aims to help the … understand the prevalence and basis of genetic diseases in their nations and the associated public health challenges, …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic … will empower genetic studies of human disease. The full sequencing builds upon the work of the Human Genome Project , …
Event
On March 15, 2021, NHGRI’s Policy and Program Analysis Branch hosted a panel discussion exploring a constant tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities.
… clinical practice is the question of how experts can act in the best interest of patients and research participants … Striking the Balance Between Expert Perspective and Patient Autonomy - exploring this tension at multiple levels in genomics research and medicine, from patient-provider …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will … secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS … NHGRI to Intramural Investigators employing exome/genome sequencing. …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in biomedical research and health care. … leading up to the start of the $1,000 Genome Program. Sequencing and Re-Sequencing the Biome! July 2002 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… Ten intramural investigators will receive exome sequencing data as part of their clinical research projects … (CCGO), which is encouraging NIH institutes to jumpstart genomic medicine by increasing the use of genomic data in … NIH Clinical Center. Using CCGO funds, the NIH Intramural Sequencing Center will sequence the exomes of 1,000 NIH …