In Rare Disorder, a Familiar Protein Disrupts Gene Function
... children with the condition live into adulthood. CdLS has a wide range of severity, with the mildest form manifesting as apparent isolated mental retardation and/or autism. Krantz and colleagues investigated cohesin, a protein complex consisting of at least four proteins that form a ring that ...Progress Against Malaria and Other Infectious Diseases Among Highlights at Annual Vaccine Conference
... the countries are home to more than 400 million people at risk of meningitis, which kills one in 10 and leaves many others with hearing loss, mental retardation and epilepsy. Until now, public health officials have been offering a polysaccharide vaccine whenever epidemics hit, but it provides only ...One Shot of Gene Therapy Spreads Through Brain in Animal Study
... disease mucopolysaccharidosis type VII (MPS VII). In people, MPS VII, also called Sly syndrome, is a rare, multisystem disease causing mental retardation and death in childhood or early adulthood. Sly syndrome is one of a class of some 60 disorders called lysosomal storage diseases that collectively ...Positive Kuvan(TM) Pivotal Phase 3 Trial Results Published in The Lancet
... accumulates to abnormally high levels in the blood and becomes toxic to the brain, resulting in a variety of complications including severe mental retardation and brain damage, mental illness, seizures, tremors, and limited cognitive ability. As a result of newborn screening efforts implemented in the 1960s ...Researchers Discover Gene For Rare Skin Disorder
... institute that provided funding for the Mental retardation and Developmental Disabilities Research Center at ... and the senior author of the paper. Mental retardation is seen in about fifteen percent of patients with ... said Ljubisa Vitkovic, M.D., of NICHDs Mental retardation and Developmental Disabilities Branch. But they ...Fragile X, Down Syndromes Linked to Faulty Brain Communication, Stanford Researcher Finds
... PhD, studied Fragile X syndrome, which is a leading cause of mental retardation in this country. Affected people tend to have learning disabilities, ... that these reduced-complexity networks are the basis for the mental retardation that occurs with both syndromes," Madison said. If so, the problem is ...