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News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… system and can cause abnormal eye movements, seizures and brain damage. Current treatments often involve enzyme … this infused form of the enzyme cannot cross into the brain and treat the symptoms of the disease that affect the …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… people must consume a certain amount to support body and brain growth and function. As others have observed in … isoleucine. This might have untoward effects on growth and brain development. Further observational studies led by Dr. … block methionine and other amino acid transport into the brain, where they are needed for growth. The authors worked …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… neoplasia type 1 (MEN1), a condition characterized by tumors primarily of the parathyroid, pituitary and endocrine …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… human chromosome 21. How these 45 extra genes affect the brain and behavior of the previous Ts65Dn mice has not been … extra 45 genes in the previous mouse model were affecting brain development and contributed to more severe difficulties … are considerable effects of these extra genes on mouse brain development and behavior,” said Faycal Guedj, Ph.D., …
Staff
Dr. Issel Anne Lim is the Deputy Director of the Division of Extramural Operations (DEO) within NHGRI’s Extramural Research Program (ERP).
… and analysis methods to characterize iron in the brain and spinal cord for neurodegenerative conditions. She … AV, Li X, Hsu JT, Airan RD, Mori S, van Zijl PC. Human brain atlas for automated region of interest selection in … anisotropies of white matter in vivo in the human brain at 7 T . Neuroimage . 2012 Aug 1;62(1):314-30. doi: …
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 …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
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, …