In this TEDx talk, researchers from HemoShear Therapeutics and Children’s National Medical Center describe how they can use cells from a diseased human liver to test treatments for that disease more rapidly and effectively than they could through tests on animals.
Their patient, “Stacy,” suffers from a very rare genetic condition – proprionic acidemia (PA) – which affects her body’s ability to completely process proteins and fats. As a result, proprionic acid begins to build up to toxic levels in her blood. The condition affects 1 in 100,000 people, and can lead to a variety of serious health problems and even early death. Like other PA patients, Stacy’s liver was worn out by its efforts to clear the toxic build-up from her body, and she eventually needed a transplant.
As Brian Wamhoff from HemoShear points out in this video, scientists have tried to recreate PA in mice that have been genetically engineered to exhibit the disease – but the condition kills mice immediately, before they can be treated. And as Wamhoff says, “humans are not mice.” Researchers need a way to test treatments on viable liver cells taken from a human with proprionic acidemia. So HemoShear developed a technology that keeps cells alive in conditions that mimic those in the patient’s body. When Stacy recently got her new liver, doctors sent living cells from her diseased liver to HemoShear – allowing them to create the first working “model” of proprionic acidemia.
Says Marshall Summar, Chief of Genetics and Metabolism at Children’s National Medical Center, in the video: “What this means is we can cut literally years off the development of new treatments for our patients. Before, we would have to try to develop an animal model…that often wouldn’t work. Or we’d try serendipity – we would try, maybe there’s drug that would work here and there. Now we can take a systematic approach to developing new therapies for these patients. This literally is an order of magnitude improvement on what we’re going to be able to do. And it offers us, for the first time, hope for developing therapies rapidly for these patients with rare diseases, so we can tackle the other 6,999 of them.”