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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… providers generally don’t have a lot of experience with genetic and genomic information. When there is uncertainty in …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… clinical geneticists, social and behavioral scientists, genetic counselors, those involved with genetics and public … clinical diagnosis of disease and identification of genetic predisposition to disease. Explain the potential ethical, legal, and social issues related to genetic testing and the recording of genetic information. …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… family. However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told … the signs and symptoms. In Canada where Emily lives, genetic testing to diagnose such a condition is not part of … study , which takes a detailed look at the clinical and genetic features of people who may have the rare condition. …
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
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… treatments for people suffering from unknown and rare genetic conditions. Bill Gahl, M.D, Ph.D., Senior … country. The UDP's first discovery involved uncovering the genetic basis of the rare disease Arterial Calcification due … of Medicine in 2011. To date, they have discovered 23 new genetic disorders and disease phenotypes. "The UDP has been …
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
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
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 …