Mentor: Dr. David Fuller
College of Public Health and Health Professions
"I was inspired to research as a result of my curiosity and yearning to help find answers to questions that remained unanswered in the medical field. I hope to gain experiences that will benefit me throughout my medical career and future endeavors."
- Pompe Disease
- Cervical Spinal Cord Injuries and Neuroplasty
- Respiratory Neurophysiology
- Shands Hospital - Pediatrics/Pediatric Intensive Care Unit
- Miami Children's Hospital - Bedside Buddy Program
- Dance Marathon
Hobbies and Interests
Effects of Pompe Disease Progression and Gene Therapy on Diaphragm and Tongue Muscle Fiber Types
Pompe disease is a lysosomal disease caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for the breakdown of glycogen in the lysosomes. Therefore, patients with this disease have glycogen buildup in the lysosomes, thereby disrupting cellular architecture. Skeletal muscle and cardiac cells, as well as motoneurons, are affected by this disruption. As a result, Pompe disease is characterized by cardiomegaly (enlarged heart), macroglossia (enlarged tongue) and neuromuscular weakness. Enzyme replacement therapy (Myozyme®) is currently the only FDA approved therapy for Pompe disease. Various muscle fiber types, including slow (type I) and fast (type IIa/ IIxb), make up the skeletal muscles. My proposed research project will focus on fiber typing the tongue and diaphragm of Gaa-/- (Pompe) mice and comparing this with wild type mice. We will look at different age groups of mice and see the effects of glycogen accumulation on different fiber types and correlate this with disease severity. In addition, in a subgroup of mice, we will inject the tongue with gene therapy using adeno-associated virus coupled with GAA (AAV-GAA) and examine the effects of gene therapy on different fiber types in the tongue. This research is significant because it will be the first characterization of the fiber types involved in the muscles of respiration in Pompe Disease, and the first examination of the effects of gene therapy on muscle fiber types.