International team identifies the mutations that cause the most frequent congenital heart defects

Bicuspid aortic valve is the most common congenital defect in humans, affecting between 1% and 2% of the population. Instead of the usual three symmetric leaflets, affected individuals have two asymmetric valve leaflets. This defect is a frequent cause of aortic stenosis and endocarditis and is associated with early calcification of the aortic valve. Currently the only effective treatment is valve replacement surgery.

Researchers discover potential molecular indicators for Parkinson’s symptoms

Hand tremors and slowed movements are two of the most widely recognized hallmarks of Parkinson’s disease, and for many sufferers the first indication that something is amiss. But by the time these symptoms manifest, those patients have already lost 50–80 percent of their dopamine neurons—a mass die-off that causes the neurodegenerative disease. Malfunctions in dopamine-dependent areas of the brain are responsible for many of the symptoms, which differ from person to person in an unpredictable way.