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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 …
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 …
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 …
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 …
Staff
Sarah Bates is the chief of the NHGRI Office of Communications.
… led communications for the Engineering Directorate and the BRAIN Initiative, covering complex and sensitive topics such …
News Release
Sarah Bates has been named the new chief of the Communications and Public Liaison Branch at the National Human Genome Research Institute.
… led communications for the Engineering Directorate and the BRAIN Initiative, a research effort to accelerate the … global nonprofit organizations dedicated to advancing brain research; it gained more than one million page-views in …
News Release
The High School Scientific Training and Enrichment Program is one of four internship subprograms in the NIH Summer Internship Program in Biomedical Research.
… said Mr. Sawyer. "I am doing clinical research using brain imaging data acquired on more than two thousand …