Spinal Muscular Atrophy (SMA) is the leading genetic cause of infantile death and the leading genetic killer of children under the age of two. As an associate professor in MU’s Department of Veterinary Pathobiology, Christian Lorson has dedicated his life’s research to the study of this devastating disease in hopes of someday developing therapies to replace the diseased gene with a ‘healthy” one.
Lorson describes Spinal Muscular Atrophy, or SMA, a pediatric neurodegenerative disease that affects children. Thought by many to be a “rare” disease, Lorson says that, unfortunately, SMA is quite common, occurring once in every six-thousand live births worldwide. A devastating diagnosis, Lorson says SMA is the leading cause of infantile death.
SMA diagnoses are divided into three types. A diagnosis of type one SMA is the most devastating of the three, although each of the types involves an activity loss, to some extent, in an individuals voluntary muscle groups. “As you go through the spectrum, you’ll see a difference in the severity and in the age of the onset of symptoms,” Lorson said.
Lorson and his lab team are looking at SMA from two distinct yet related directions. First, they are trying to determine what causes SMA, and second, they want to develop gene therapy programs to replace the SMA-causing gene. This research is done in collaboration with several drug and biotech companies.