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News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… remain about ethical, legal and social implications of the technology. People who are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. … asked patients, parents and physicians in the sickle cell disease community what they wanted and needed to know about …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The Democratizing Education for Sickle Cell …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… Each news cycle brings reminders about the importance of science and its critical role in society, and NHGRI … – ENCODE was able to develop an updated and much-improved genomic encyclopedia, expanding its provision of critical … continually help to advance our understanding of genomic basis of human traits and diseases. With the success of the …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… (NHGRI) has appointed Carolyn Hutter, Ph.D., the director of the Division of Genome Sciences - the NHGRI division that … health and disease, and seeks technologies that facilitate genomic discoveries. … Dr. Hutter comes to the position with … moves towards a fuller understanding of the genomic basis of human disease. She will be responsible for …
Educational Resources
A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases.
… (abbreviated GWAS) is a research approach used to identify genomic variants that are statistically associated with a risk for a disease or a particular trait. The method involves surveying the genomes of many people, looking for genomic variants that occur more …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… Steven Benowitz … An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with … of studies of human biology and medicine, providing the basis for a new understanding of how inherited differences in …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… Faherty, Ph.D. … New grants from the National Institutes of Health (NIH) will fund researchers to develop … which differences in DNA make people more susceptible to disease. The awards, which total approximately $11.1 million … predictions about which variants in non-protein-coding genomic regions affect disease susceptibility and response to …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… Steven Benowitz … As a growing number of medical centers and laboratories are sequencing patients' … researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make …