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Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… … ADHD often appears to run in families, and research studies have suggested that there may be a genetic component … to participating families. As with all of our research studies, participation is completely voluntary. You may …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… and Public Liaison Branch … A new study highlights how genomic mutations that cause mitochondrial disease may also … in immune response … A new study highlights how genomic mutations that cause mitochondrial disease may also … response, Peter McGuire M.D. … A new study highlights how genomic mutations that cause mitochondrial disease may also …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… predictions about which variants in non-protein-coding genomic regions affect disease susceptibility and response to … are made and in which tissues. "Variants in non-coding genomic regions are harder to interpret than variants in the … Lisa Brooks, Ph.D., program director of the NHGRI Genomic Variation Program. "When many variants in a region are …
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.
… from the institute and the field of genomics. … Research studies that generate genome-sequence data rely on a … a single actual human or a representation of human genomic variation. A reference sequence provides researchers a set of …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations … human DNA generated by the Human Genome Project and other genomic research, scientists and clinicians have more … that treatments will be tailored to a patient's particular genomic makeup. Thus, the role of genetics in health care is …
News Release
National Institutes of Health researchers have discovered a specific network of proteins that is necessary to restore hearing in zebrafish through cell regeneration. The study may inform the development of treatments for hearing loss in humans.
… and zebrafish are visually quite different, but at a genomic level, they share more than 70% of their genes. This genomic similarity offers the potential for researchers to … would like to unravel.” Using a combination of genomic techniques and computational-based machine learning, …
Educational Resources
The founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.
… Effect … The founder effect is the reduction in genetic variation that results when a small subset of a large … population is used to establish a new colony. … Genetic Variation, Population Genetics, Human Migration, Genes … A … effect, as related to genetics, refers to the reduction in genomic variability that occurs when a small group of …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … To have a fuller understanding of the effects of genomic variation on disease, researchers urge the need to include as many diverse groups of people in studies as possible. Credit: Harry Wedel, NHGRI. Lipids are …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… more accurate than newer methods." In addition, several studies in recent years have suggested that NGS can identify differences in the DNA sequence - called genomic variants - as accurately as Sanger sequencing. To … an NHGRI DNA sequencing project aimed at examining the genomic make-up of 1,500 mostly healthy individuals. Dr. …
News Release
The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. sites.
… Prabarna Ganguly, Ph.D. … The newly launched Impact of Genomic Variation on Function (IGVF) consortium to include 30 U.S. … a catalog of the results and approaches used in their studies. All information generated by the consortium will be …