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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.
… Jeannine Mjoseth … For many years, Tonya and Cody Hanson's parents didn't know … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a … 568961/2017-news-release-nih-and-collaborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/" …
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.
… National Institutes of Health, asked patients, parents and physicians in the sickle cell disease community what they … treatments, which appear to provide a potential for sickle cell, are among the most widely publicized medical … somatic genome editing, an experimental treatment option for sickle cell disease.   Your browser does not support the …
Event
On March 13-14, 2017, the National Human Genome Research Institute (NHGRI) in partnership with the Foundation for the National Institutes of Health (FNIH) hosted a strategic visioning meeting for a proposed GLEE Initiative.
… Au Hawaii State Department of Health Kellan Baker Center for American Progress (CAP) Lu Barker Association for … Society Jim Thomas NIH/NHGRI Ivory Toldson Quality Education for Minorities (QEM) Network Beth Tuck NIH/NHGRI … Auditorium … MD … 9000 Rockville Pike … Building 45 … Genomic Literacy Education and Engagement Strategic Visioning …
For Patients and Families
The partnership engages communities on genomics, informs and shares perspectives, and impacts the focus of research.
… The Partnership for Community Outreach and Engagement in Genomics brings … diverse populations to engage communities around genomic science, to inform and share perspectives about … by the National Human Genome Research Institute's (NHGRI) Education and Community Involvement Branch, the Partnership …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… heat rises and the summer arrives, you might be looking for some indoor activities to keep you cool. I suggest that … this analogy often applies when trying to identify genomic variants associated with phenotypes in large-scale … its partners will host  Healthcare Professionals’ Genomics Education Week on June 6-10. This social media campaign will …
Professional Development Programs
The Short Course in Genomics offers educators a chance to hear lectures and receive teaching resources from leading researchers, clinicians and staff.
… How to Apply The application is closed. … The Education and Community Involvement (ECIB) Branch within … to the full course.   … In this video, Belen Hurle, Ph.D., education outreach specialist in NHGRI's Education and … illustrates how to assemble a paper-based CRISPR-Cas9 kit for a hands-on CRISPR technology demonstration. Model is …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… genomics, health Genome exhibition to depart Smithsonian for multi-city tour New Exhibition Makes Genome Accessible to … populations; and what the next decade holds in terms of genomic advances. A Spectrum of Perspectives: Native Peoples … Sequencing, Smithsonian Exhibition, Genomics 101, Genomics Education, Learning About Genomics, Museum Exhibits On …
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… an Internal Medicine Physician and is the Program Director for the National Human Genome Research Institute (NHGRI) … genetic research in support of implementing genomic medicine. Prior to starting at NHGRI, he spent … and Genomics. During this time, he established genomic policy and conducted genomic research for the United …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… of its kind, researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 … that researchers have harnessed to explore two approaches for reducing the burden of the disease. The first approach … of upcoming genome editing studies will be essential for the success of clinical trials and implementation of new …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Finally, the 91st meeting of the National Advisory Council for Human Genome Research will take place on September 14-15. … of the central challenges in biology is understanding how genomic variation affects genome function to influence … as the assistant vice president for academic affairs and education for health sciences at the University of Utah, Salt …