Mai ElMallah

Mai ElMallah, MD, is an Adjunct Assistant Professor at UMass Chan Medical School within the Department of Pediatrics, affiliated with the T.H. Chan School of Medicine's Gene Therapy Center and Pediatric Pulmonology division. Her work focuses on respiratory and neuromuscular disorders, particularly in genetic diseases like Pompe disease, Duchenne muscular dystrophy, and amyotrophic lateral sclerosis (ALS). She has extensive experience in gene therapy approaches and mouse model research.

Education includes an MD from Queens University Belfast and an MS in Clinical Investigation from the University of Florida. Her research explores respiratory dysfunction in neurological and genetic diseases, emphasizing translational therapies and disease mechanisms. Key areas include respiratory pathology in neuromuscular disorders, gene therapy for lysosomal storage diseases, and understanding cardiorespiratory dysfunction in neurogenetic conditions.

Her publications highlight studies on respiratory dysfunction in mouse models of ALS, SCA, and DMD, as well as therapeutic interventions using AAV-based gene therapy. She investigates molecular pathways involved in diseases like Pompe and explores clinical implications for pediatric populations, such as obstructive sleep apnea management.

ElMallah's work bridges basic science and clinical applications, with a focus on improving respiratory outcomes in genetically driven diseases. Her contributions include studies on enzyme replacement therapies, airway smooth muscle dysfunction, and the role of glycogen accumulation in respiratory failure.