The Lillehei professor in stem cell and regenerative cardiovascular medicine at the University of Minnesota spoke about the session she chaired at the 2023 MDA Clinical and Scientific Conference.
“I think it's very exciting how we have advanced in establishing models that can really mimic a more mature muscle because this is very important as we study neuromuscular disorders... We can ask important questions [regarding] contraction, calcium handling—so it's really allowing us to get to the next step in terms of understanding disease pathogenesis and testing therapeutics.”
Disease models remain an important part of research in the neuromuscular disease space for studying disease mechanisms and for non-clinical testing of new and current treatments, such as gene therapies. Induced pluripotent stem (iPS) cells could be a potential option for disease modeling in cases where animal models or traditional patient samples are not ideal. Rita Perlingeiro, PhD, the Lillehei professor in stem cell and regenerative cardiovascular medicine, Department of Medicine, University of Minnesota, chaired a session entitled "Using iPS Cells to Model Neuromuscular Disease" at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023, in which this topic was discussed.
In an interview with CGTLive™, Perlingeiro provided an overview of the session, which included 4 presentations, noting talks on using iPS cell models to study disease mechanisms in patients with FKRP mutations and disease pathogenesis in patients with Duchenne muscular dystrophy, among others. Perlingeiro pointed out that iPS cell models can be used to mimic mature muscle, which she considers particularly exciting for understanding disease pathogenesis. She also discussed challenges that remain in this space, mentioning difficulties with 3-dimensional modeling and obtaining samples from patients with very rare diseases.
Read more coverage of the 2023 MDA Conference here.
Editor’s Note: Perlingeiro disclosed that she is a co-founder of and holds equity in Myogenica Inc., a University of Minnesota start-up. She disclosed potential conflicts of interest including grants/research funding pending, grants received/research funding, patents pending, patents received, and royalties.