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Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… interventions. Dr. Pavan's group first discovered the neural crest cell transcription factor SOX10 , which is … of the HMG-box transcription factor SOX10 result in neural crest stem cell defects in mice that accurately model … complex component Magoh controls brain size by regulating neural stem cell division. Nature Neurosci , 13:551-558. …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… can cause spina bifida and other issues in closing the neural tube, the structure that eventually forms into the … shows that this program has prevented almost 40% of neural tube defects.” Could these same vitamins contribute to …
News Release
Scientists set their sights on chromatin - the DNA-protein complex that packages DNA into chromosomes in the cell - to better understand how the genome works.
… goes wrong in disease states, unless we can understand 'circuits' that set individual cell 'states,' and how they …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… which genes are turned on and off, and the formation of neural connections in the brain. Transcription. Instructions …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… or medical geneticists. These computing systems, called neural networks, mimic how the brain processes information. Researchers must train the neural networks to associate specific skin characteristics …
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… We consider the clinical applications of the genomic and neural processes that impact the course of common mental …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… few events have a large impact or the extended duration of neural plasticity in human development is key for how humans …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… then we move to exome or genome sequencing. This short-circuits that "doctor shopping" over a prolonged …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… or misshaped valves; abnormal limbs, such as a clubfoot; neural tube defects, such as spina bifida; and problems …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… data release NIH-funded study sheds light on abnormal neural function in rare genetic disorder About 14% of …