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Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… as an individual's teenage years. Tinnitus, dizziness, facial numbness, balance problems and chronic headaches may …
Staff
Dr. Jennifer Troyer is the director of NHGRI's Division of Extramural Operations.
… carcinoma in China involve the HLA class I antigen recognition groove. SJ.PLoS Genet . 2012;8(11):e1003103. doi: …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… Medical Center, Omaha, and 2019 award recipient. "A recognition such as the Genomic Innovator Award can propel a …
File
… 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 …
FAQ
Frequently asked questions about the annual Bettie J. Graham Leadership Award for Enhancing the Genomics Workforce.
… associated with the awards program. Honorific awards of recognition will be offered to one individual/group in each …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… disease. (Metabolic Disorders) 2453T. Karin Weiss: Subtle Facial Dysmorphism, a Variable Phenotype and Negative 4 Gene …
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 …
Fact Sheet
With increasing complexity in genomic data, researchers are turning to artificial intelligence and machine learning as ways to identify meaningful patterns for healthcare and research purposes.
… ways. Some examples include: Examining people’s faces with facial analysis AI programs to accurately identify genetic …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… careful and cognizant of community, regardless of legal recognition and norms and regulations about consent and data …
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 …