5/30/2010 PERMALINK
Researchers find the gene that cause severe birth defects. University of Leeds : An international group of researchers has identified the genetic cause of an inherited condition that causes severe abnormalities in developing babies. The work should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening. Their findings, which show how the disease gene stops cells' finger-like antennae or 'cilia' from detecting and relaying information, may ultimately lead to treatments for more common related disorders, such as spina bifida and polycystic kidney disease.