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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… In 2008, I sponsored a bill that became law, called the Genetic Information Nondiscrimination Act or more commonly known as GINA. GINA prevents genetic discrimination in employment and health insurance. … CRISPR-based genome editing doesn't create new avenues for genetic-based discrimination in future generations? From …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… in the NEJM last year, exome sequencing identified the genetic cause of disease in about 25 percent of patients. The … exome sequencing are open questions. So far, as with other genetic tests, insurers have covered some cases, … sequences, or long deletions that are responsible for some genetic disorders. Patients for whom the technology is most …
News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… Polymorphisms Registry, an NIEHS study examining how genetic and environmental factors influence human health. Out … who chose not to learn medically actionable secondary genetic findings about themselves. Genet Med (2021). Explore …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… the chromosomes was detected, and that they should see a genetic counselor immediately. The couple found it hard to … meant for their future baby. But when they met with the genetic counselor, she said the genetic abnormality wasn’t likely to be from the fetus but …
News Release
As director, Erin Ramos will lead the institute’s extramural programs in basic genomics research.
… Nina Fedoroff and discovered her interests in statistics, genetic analyses and population-level health. Blending her … of Washington. While a graduate student, she studied the genetic epidemiology of Alzheimer’s disease and …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… advances made by African American people in biomedical and genetic science. The first session will be held on May 18, … Communications will convene an expert panel entitled "Does genetic and genomic screening keep open the door to … eugenics and scientific racism in the context of genetic and genomic screening technologies. Emerging …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… to significantly increase the proportion of human genetic diseases with an identified genetic cause, as part of the Genomics Research to Elucidate …
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.
… of human genomic variation and for understanding the genetic contributions to certain diseases. The work was done … nuances of the human genome, which in turn will empower genetic studies of human disease.” The now-complete human … DNA differs. Such insights are vital for understanding the genetic contributions to certain diseases and for using …