Finding the cause of fetal abnormalities.

• Position: Genetics

The genetic cause of an inherited condition that causes severe fetal abnormalities has been identified by an international group of researchers. The work, co-led by the University of California-San Diego Institute for Genomic Medicine, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruher and Joubert syndromes to be identified beforehand through screening.

The researchers' findings--which show how the disease gene stops cells' finger-like antennae or "cilia" from detecting and relaying information--ultimately may lead to treatments for more common related disorders, such as spina bifida, retinal blindness, and polycystic kidney disease.

"By understanding the science behind this relatively rare condition, we can gain insight into other pediatric diseases that are far more frequent. Spina bifida, for example, is one of the most common birth defects, affecting one in every 1,000 newborns," indicates Joseph Gleeson, professor of neurosciences and pediatrics, who directed the research.

Meckel-Gruber syndrome and Joubert syndrome are part of a wider family of disorders known as ciliopathies--so-called because the cilia are not working as they should and do not respond to signals properly. This lack of...