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Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… using interspecies comparisons of clinical outcomes and brain connectivity changes using r-fMRI techniques. As … our intervention using traditional and novel techniques in brain MRI- including structural, magnetic resonance … (NCT02461420); and the “Autoimmune Brain Disorders Program” lead by Dr. Gena Mooneyham at NIMH. …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… to treat Gaucher disease have not been able to enter the brain and reach those neurons that are affected in the most … ) 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 …
Clinical Research
El Programa de Enfermedades no Diagnosticadas (UDP) proporcionar respuestas a los pacientes con afecciones misteriosas que han eludido el diagnóstico durante mucho tiempo.
… Last Resort WFTV-TV Orlando, FL March 8, 2012: Mysterious brain lesions send Pasco County man to National Institutes of …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic testing is also used to study the genomes of tumors in cancer cases. … Genetic testing is the use of a …
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.
… and her colleagues are now studying samples from different brain regions of these new cross-bred mice to discover what … the most severe forms of Gaucher disease that affect the brain, she said. Last year, Dr. Sidransky and other …
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., …