Research by a team led by Nick Menhart, associate professor of biology, in exon skipping, a leading near-term prospect for meaningful treatment of Duchenne muscular dystrophy (DMD), was honored at a recent conference.
The team including biology graduate students Krystal Manyuan Ma, Xin Niu, and biochemistry undergraduate Evelyn Thomas (BCHM ’17) won a Best Poster award for “Are Alternative Exon Skip Repairs of the Same DMD Defect Equivalent?” at the Parent Project Muscular Dystrophy (PPMD) Connect Conference, held June 29-July 2 in Chicago. Ma was lead presenter on the poster.
This work aims to understand the impact of recently approved exon-skipping drugs on boys with DMD. DMD is a devastating disease affecting 1 in 3,500 boys, whose muscles steadily deteriorate through childhood. Most need a wheelchair by about age 12 and die by their 20s. Exon-skipping drugs aim to skip over the defective parts of dystrophin, restoring some function and halting the muscle wasting. The first member of these new class of drugs was recently approved by the FDA, with several others in ongoing clinical trials. However, there are alternative ways to skip over many patients’ mutation, and each produces differently modified dystrophin that make them better or worse repairs. The team characterized different “repaired” versions of dystrophin protein in an attempt to determine which are superior and which will be maximally effective, in any given person, based on their specific genetic defect. Ma also is working with Jeff Wereszczynski, assistant professor of physics, to use computational methods to understand the impact of the edit on the properties of the proteins in advance of more time-consuming experimental studies.
PPMD is one of the major philanthropies supporting muscular dystrophy, and is focused on DMD. The Connect Conference brings together industry partners, scientific leaders, medical providers, and people living with Duchenne and their families.
Thomas worked on the project funded by a College of Science Undergraduate Summer Research Stipend. She is headed to medical school this fall.