U. Geneticists Unlocking Nature’s Mysteries and Clues to Life Saving Treatments
Apr 10, 2015 12:00 AM
The diaphragm is an under-appreciated muscle, working quietly behind the scenes to fill our lungs with life-sustaining breath. It “delivers oxygen to us a dozen times or more each minute, a half-billion times during an eighty-year life,” writes The New York Times science writer, Carl Zimmer in a recent profile of research underway at the University of Utah to explain how the diaphragm develops.
This is important, as Zimmer so expertly and succinctly explains, because the diaphragm appears to have played a pivotal role in our evolution as a species. Understanding the processes required for assembling embryonic cells into a diaphragm sheds new light on how mammals evolved to have one. It also helps explain what goes wrong in babies born with a catastrophic birth defect know as a congenital diaphragmatic hernia (CDH).
CDH isn’t as well known as spina bifida or cystic fibrosis, but just as common. Babies with CDH are born with a hole in their diaphragm, allowing organs to protrude through the gut into the chest cavity where they impede breathing.
Genetic mutations have been linked to CDH, and a University of Utah study published in Nature Genetics is the first to document how genes build the diaphragm. The research points to a crucial role for connective tissue. “We learned that these defects happen really early – much earlier than previously thought,” says Gabrielle Kardon, Ph.D., associate professor of human genetics and principal investigator on the study.
There is currently no treatment to prevent CDH. Even with surgical patching of the diaphragms CDH is “silently killing half of the affected babies,” explains Kardon. Research like hers, though, offers clues as to when and how CDH occurs in fetal development, opening the door to preventative treatments. Her lab is poised to test whether drugs can prevent the birth defect in animal models.
It’s fascinating work involving engineered mouse models with glowing cells. And it’s a powerful example of our bench strength in genetics here at the University of Utah – and of the big questions that basic researchers seek to illuminate every day.
Listen to an interview about the research on The Scope Radio.