On March 18th, 2025, Associate Professor Catherine Rehder, PhD, gave a talk titled “Understanding Molecular Challenges and Opportunities in Pompe Disease” at the Muscular Dystrophy Association meeting in Dallas, Texas. The invited session, “Pompe Disease: Mechanisms, Therapeutic Advances, Advocacy, and Integrated Care Approaches,” was spearheaded by Duke Chen Family Distinguished Professor of Pediatrics Priya Kishnani, MD, in partnership with TREAT-NMD (Translational Research in Europe, Assessment and Treatment for NeuroMuscular Disorders) , a global network of neuromuscular experts.
Rehder discussed how different variants in the acid alpha-glucosidase (GAA) gene impact enzyme activity. She also detailed the challenges faced in newborn screening for Pompe disease, a rare genetic disorder where the body cannot break down glycogen due to a problem with a specific enzyme. Finally, she outlined the current and future efforts to classify variants of uncertain significance, including ongoing Duke research into functional studies of such variants.
Rehder is director of Duke’s Clinical Cytogenetics and Molecular Diagnostics Laboratories and has an interest in education, variant classification for lysosomal diseases, newborn screening, and pediatric oncology. She is certified by the American Board of Medical Genetics (ABMGG) in both Clinical Cytogenetics and Clinical Molecular Genetics.