Search Results
Staff
Dr. Edward Giniger is an adjunct investigator in NHGRI's Genetics and Molecular Biology Branch.
… the size of an AIS-like compartment in mushroom body neurons of the Drosophila central brain. J. Neurosci . … regulates Golgi architecture in Drosophila photoreceptor neurons. Mol Biol of the Cell, 25:2993-3005. 2014. [ PubMed ] … Cdk5 regulates developmental remodeling of mushroom body neurons in Drosophila . Dev Dynamics , 244:1550-1563. 2015. [ …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… differences involve how brain nerve cells, known as neurons, organize themselves to form neural circuits during … among different dog lineages. … dog genome, behavior, neurons, brain, development … NHGRI researchers have shown …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… fundamental process used by cells throughout the body, but neurons are particularly dependent on autophagy for survival. … little is known about how ATG4D contributes to healthy neurons. The first inclination of ATG4D ’s effects on brain … not be true in the brain. “The brain is so complex, and neurons have very specialized functions. To fit those …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… have not been able to enter the brain and reach those neurons that are affected in the most severe forms of Gaucher … disease in the lab. She then converted the stem cells into neurons that had features that were identical to those in people with Gaucher disease. Neurons are nerve cells that transmit information via …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… small protein with a tendency to clump that can affect the neurons controlling movement. Midbrain neurons from the new mouse model. The green shows the clumped … so that it can still function. In stem cell-derived neurons made from samples from patients with Parkinson's …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher disease and parkinsonism. …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… PD, which have been differentiated into dopaminergic neurons, astrocytes and macrophages. Mouse models of Gaucher … levels in Gaucher iPS cell-derived dopaminergic neurons. This approach promises convenient and less costly … and glycolipid levels in iPSC-derived dopaminergic neurons from patients with Gaucher disease and parkinsonism. …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… born, GM1 gangliosidosis was already wreaking havoc on her neurons. At the time, no one knew. Jojo inherited the genes … Aguila III, NHGRI.  Molecules, called gangliosides, align neurons and act as signals. They tell our body how to do … the system. New signaling molecules aren't built, neurons stop functioning, and processes like walking, talking …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial …