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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.
… Ph.D. The Thompson team will concentrate on human brain cells, which are far less understood than other cells … LINCS-type perturbations to studying an array of human brain cells, the researchers hope to identify targets for … . NINDS is the nation's leading funder of research on the brain and nervous system. The mission of NINDS is to seek …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… protein to be malformed, prone to clumping in the brain and causing the death of nearby nerve cells. Cells of the basal ganglia, a brain area responsible for coordinating movement, and of the … what the defective gene does to various structures in the brain and how it affects the body's chemistry and metabolism …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… (OCD) study volunteers using genetic testing, 7T MRI brain scans, and semi structured clinical evaluations. … … in genetic syndromes and neurodevelopmental disorders . Brain Res . 2014 Sep 11;1580:199-218. Sagar A , Bishop JR, …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… families for detailed multi-system evaluations, including brain and muscle imaging studies and muscle biopsies. The … ) is the nation's leading funder of research on the brain and nervous system. The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… walls of the blood vessels, hindering blood flow to the brain and resulting in strokes. The treatment works by … the wals of the blood vessels, hindering blood flow to the brain and result in strokes. Image Credit: Darryl Leja, …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… at least two genes. Non-genetic causes such as abnormal brain development, brain injury or environmental factors are also believed to …
File
… bulk tissue) • Assays (genomic, single cell) • Special brain consideration 10 11 Tissue Procurement •At a minimum, … by Steering Committee 12 Special Consideration - Brain • Tissue Procurement • Expert evaluation, precise … system or equivalent, and optimal preservation of brain tissue for single -cell data generation (optimally, PMI …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… but often, these genes would affect many systems like brain development or gastroenterology. The postdocs that …
Research Funding
The developmental Genotype-Tissue Expression initiative's goal is to catalog and analyze transcriptional profiles from a wide variety of tissues from the pediatric period, including neonates through adolescents, in a post-mortem setting.
… Interchange Philadelphia, PA University of Maryland Brain and Tissue Bank Baltimore, MD University of Rochester …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… As a human is developing, some early cells start to become brain cells. Specific small chemicals (called methyl groups) … onto the DNA in front of genes that won't be needed for brain cells. Here, the methyl groups act like stop signs: in all future brain cells, the methyl groups will make sure the genes that …