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… of limbs, most prominent at rest; progressed to include facial twitches and mild dysarthria • Exome: de novo R418W (c.1252C>T) in ADCY5 • Familial Dyskinesia with Facial Myokymia • Ended diagnostic odyssey Chen et al, Annals …
News Release
NIH awards more than $64 million to for a database of human cellular responses called the Library of Integrated Network-based Cellular Signatures or LINCS.
… more accurate than conventional drug-potency tests. This recognition may point the way toward more effective …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… Analysis Program. These efforts, combined with the growing recognition of the importance of the microbiome in human …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… truly amazing scientific accomplishment and well-deserved recognition.  All the best,  … As with all NIH-funded work, …
Staff
Dr. Joshua Denny is the head of the NHGRI Precision Health Informatics Section and Chief Executive Officer of the National Institutes of Health’s All of Us Research Program.
… others have leveraged data found in EHRs to facilitate the recognition of rare-variant associations. The aggregated risk …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) aims to identify all functional elements in the human and mouse genomes.
… D. melanogaster  genomes under the modENCODE Project. In recognition of the need for new approaches, methods and … of these three phases of the ENCODE Project and the recognition that additional effort was needed to complete and …
The Genomics Landscape
In the May 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the Human Genome Project receiving the 2017 Prince Mahidol Award.
… the HGP by the Prince Mahidol Foundation is an appropriate recognition of these advances. For the NHGRI press release, …
Staff
Dr. Andy Baxevanis is a senior scientist leading NHGRI's Computational Genomics Unit.
… the NIH's Ruth L. Kirschstein Mentoring Award in 2015, in recognition of his commitment to scientific training, …
MINC
The MINC teams were made up of an administrator and an educator. They learned a lot from this initiative that they wanted to share with you.
… RN Manager, Clinical Professional Development and Magnet Recognition Program & Director, Accreditation and Clinical …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 Jun 29. doi: …