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Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Eunice Kennedy Shriver  National Institute of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at NHGRI. She oversees the research …
Media Advisory
On August 16-18, 2017, NIH hosted a workshop, "The Human Microbiome: Emerging Themes at the Horizon of the 21st Century."
… human development, physiology, immunity, brain development and behavior, and to create research resources for this … National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 institutes and centers … and supporting basic, clinical and translational medical research, and is investigating the causes, treatments …
About Genomics
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… NHGRI has launched a publicly available and keyword-searchable archive providing full digital access … historical artifacts from the Human Genome Project and other major genomics efforts. To receive more information about gaining …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and Innovation – … for Neurodegenerative Disorders P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… So, on behalf of NHGRI, I would like to offer up some genomics-related diversions. First, anticipating interest in … describes some useful information sources about the virus and some specific resources for NIH grantees and applicants. Second, as I mentioned in last month’s issue …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare … 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … and are earning their doctoral degrees from Harvard Medical School by studying the mutations in the PRNP  gene …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… month, I attended the annual Advances in Genome Biology and Technology (AGBT)  general meeting. The first such AGBT … is gratifying to reflect on the amazing metamorphosis of genomics over the last two decades, especially with respect … continent. …  In November 2019, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… signatures of genetic epilepsies precede diagnosis in electronic medical records  Read the full review: Manolio TA, Narula J, Rupert …
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.
… of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… improved existing polygenic risk scores using health records and ancestrally diverse genomic data from the All of … initial look at the improved polygenic risk scores. NIH’s Electronic Medical Health Records and Genomics (eMERGE) Network will …