Current Appointments & Affiliations
Assistant Professor in Pediatrics
·
2024 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Recent Publications
GAA deficiency disrupts distal airway cells in Pompe disease.
Journal Article Am J Physiol Lung Cell Mol Physiol · September 1, 2023 Pompe disease is an autosomal recessive glycogen storage disease caused by mutations in the gene that encodes acid alpha-glucosidase (GAA)-an enzyme responsible for hydrolyzing lysosomal glycogen. GAA deficiency results in systemic lysosomal glycogen accum ... Full text Link to item CiteCross-species evolution of a highly potent AAV variant for therapeutic gene transfer and genome editing.
Journal Article Nat Commun · October 10, 2022 Recombinant adeno-associated viral (AAV) vectors are a promising gene delivery platform, but ongoing clinical trials continue to highlight a relatively narrow therapeutic window. Effective clinical translation is confounded, at least in part, by difference ... Full text Link to item CiteRespiratory dysfunction in a mouse model of spinocerebellar ataxia type 7.
Journal Article Dis Model Mech · July 1, 2021 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) and exh ... Full text Link to item CiteRecent Grants
Respiratory Characterization of DMD Mouse Models
ResearchPost Doctoral Trainee · Awarded by Sarepta Therapeutics, Inc. · 2019 - 2027Novel Adjunctive Therapies for Pompe Disease
ResearchPrincipal Investigator · Awarded by National Heart, Lung, and Blood Institute · 2024 - 2027Novel Adjunctive Therapies for Pompe Disease
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2022 - 2023View All Grants
Education, Training & Certifications
University of Florida, College of Medicine ·
2017
Ph.D.
University of Florida ·
2012
B.S.