Search Results
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.
… else. She has a disease that attacks nerve cells in the brain, rendering them useless, one by one. When Jojo was … functioning copies of the defective GLB1 gene to the cat's brain cells. Viruses are ambitious. They try to take over … The cats finish developing at eight weeks, but Jojo's brain continues to develop until she is 18 years old. I'm …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… and body. Having too much phenylalanine can cause brain damage unless diet treatment is started. Additional …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: Learning About Huntington's …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… data from more than 53 different tissue types (including brain, liver and lung) from autopsy, organ donation and …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… well as studies utilizing cells, animal models and human brain samples. With funding from the NIH Center for … W. Glucocerebrosidase is shaking up the synucleinopathies. Brain , 137:1304-22 2014. [ PubMed ] Nalls MA, Duran R, Lopez … parkinsonism: A PET study of dopamine synthesis and rCBF. Brain , 135:2440-8. 2012. [ PubMed ] Mazzulli JR, Xu YH, Sun …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (a blood clot that forms in a blood vessel of the brain), embolic stroke (stroke caused by a blood clot that … travels from a different location to a blood vessel in the brain) can also occur. Multiple strokes can sometimes lead to …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… across the entire genome, though their main focus is on brain regions that are important in schizophrenia, depression … longer telomeres may actually increase the risk for deadly brain cancers called gliomas. To better determine the role of …
News Release
NIH will award $38.5 million over five years to the Developmental Genotype-Tissue Expression (dGTEx) project, which aims to build a widely available resource of human developmental gene expression in a multitude of tissues for use in basic and clinical research.
… fund the procurement and genomic analyses of developmental brain tissues. The NICHD award will establish a Biospecimen …
File
… of information to inform a judgment www.diversity.nih.gov Brain Mechanisms of Cognitive Bias Kahneman & Tversky 1996, … & Voyer , 2012, 2014 Dual -system models of the human brain System 1 System 2 Automatic, fast, and unconscious …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… decompression is performed to decrease pressure on the brain. Children who have achondroplasia need careful …