A novel gene, BRI, located on chromosome 13 has been identified as responsible for familial British dementia, a rare inherited disease that causes progressive dementia and spasticity. The discovery provides new clues to the abnormal changes in the brain that lead to dementia.
Researchers identified a novel human gene, BRI, that causes an unusual form of hereditary dementia. The discovery provides new insights into the disease and may lead to the development of a blood test to detect the mutation.
Biochemists identify a genetic slip causing cystic fibrosis by degrading the CFTR protein's twisted structure. A new approach uses heavy water to fix the mutant protein, paving the way for lab testing of non-toxic drugs.
Researchers analyzed polar snowpack and found major ozone-depleting gases were not present in the atmosphere in the late 19th and early 20th centuries. Human emissions can account entirely for their presence in the atmosphere.
A new observational study published in JAMA found a significant correlation between low vitamin C levels and high blood lead levels among Americans. The study analyzed data from over 19,500 Americans and revealed that about half of one percent have elevated levels of lead in their blood.
A new study reveals a common genetic theme in three distinct animal species, supporting a simplified three-limbed tree of life for nearly all animals. The findings provide powerful evidence to place mollusks to humans on the same evolutionary tree.
A recent study published in the Journal of the American Medical Association found that tens of thousands of hospital patients are improperly treated for hyponatremic encephalopathy, a potentially life-threatening condition caused by low salt concentrations. The correct treatment involves increasing patients' salt concentration intraven...
Researchers at Johns Hopkins University have invented a micropump that utilizes the repeated growth and collapse of a single bubble to push liquids through narrow channels. The bubble-powered pump has no moving mechanical parts, making it unlikely to wear out quickly.
Researchers at Johns Hopkins and NIH describe a previously suspected molecular bridge between nerve cells and their surroundings, which breaks down causing nerves to deteriorate. The study adds new insight into nerve disease and focuses on stimulating nerve cell regrowth in the brain and spinal cord.