New gene discovery from Franklin researchers at CCRC

Startling new discovery of a gene that may play an important role in the development of the life-threatening birth defect congenital diaphragmatic hernia, or CDH:

The hallmark of CDH is a rupture of the diaphragm that allows organs found in the lower abdomen, such as the liver, spleen and intestines, to push their way into the chest cavity. The invading organs crowd the limited space and can lead to abnormal lung development or poor lung function, which, depending on the severity of the condition, can cause disability or death.

In a paper published recently in the Journal of Clinical Investigation, UGA researchers, along with colleagues from the Rensselaer Polytechnic Institute and the University of California at San Diego, demonstrated for the first time that a gene known as Ndst1 plays a significant role in the proper development of the diaphragm, and abnormal expression of the gene could lead to CDH.

"Scientists really don't know what causes CDH, so finding new clues like this is very important," said Lianchun Wang, associate professor of biochemistry and molecular biology in the UGA Franklin College of Arts and Sciences. "Our laboratory tests with mice give us some good clues as to what causes this defect and what we might be able to do about it in the future."

New clues are the key but getting to them - or getting to a place where research might access them - is very difficult, time-consuming and without guarantee. Congratulations to Wang and colleagues in California for their tenacity, and continued good fortune in their experiments and tests based on this discovery.