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The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… we celebrated three anniversaries — the 70th anniversary of the discovery of DNA's double-helical structure, the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National … April 25, that highlighted relevant and interesting topics in genomics and concluded with the annual Louise M. Slaughter …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… Human Genome Project … The Human Genome Project was an … Conducted from 1990 to 2003, the project was historic in its scope and scale as well as its groundbreaking approach for the free release of genomic data well ahead of publication, leading to a new …
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … … Did you know that your genome helps uncover the history of your ancestors, both near and distant? Advances since the … sequences. This reveals genomic changes that have occurred in different populations over time, which provides a more …
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.
… Prabarna Ganguly, Ph.D. … Study of millions of people from diverse ancestral groups … of genomic variants associated with blood lipid levels. … In a large-scale study of people from diverse ancestries, … The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… (COEH) Childhood-onset essential hypertension – in which there is elevated blood pressure in childhood without an obvious cause - affects 1-2% of all children, accounting for about 40% of all hypertension … University of Oxford, UK. There, he completed a D.Phil. in Human Genetics and Clinical Medicine in the laboratory of …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Prabarna Ganguly, Ph.D. … Study shows mutations in inflammation-related genes are associated with PFAPA syndrome … Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have discovered clues …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can … provides guidance on addressing these issues. Identifiable Populations Identifiable populations, which include specific …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … child's lungs every 15 minutes for the first three years of their lives. … "You do what you have to do," said Janice … out life for the first time. Everything was new." <p>In 1980, the family began working with <a …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… researchers thought that if they could identify the tens of thousands of microbial species that live in or on human beings - the human microbiome - they would find …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… … NHGRI's 2020 Strategic Vision describes opportunities in human genomics for improving human health. … The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), this week …