The ASPIRE Path in Molecular Medicine

The Gama lab investigates mitochondrial and peroxisomal disorders in the context of neurodevelopment, with an emphasis on how disruptions in these organelles contribute to neurological disease and impair neurodevelopment. As part of this work, I am studying the role of peroxisomes in neural differentiation using induced pluripotent stem cell (iPSC) models. My goal is to define how defects in peroxisomal function lead to cellular and developmental abnormalities associated with disorders such as Zellweger spectrum disorders. I will also examine how patient-derived DRP1 mutations linked to encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF1) affect mitochondrial and peroxisomal dynamics and drive neuronal dysfunction. Together, these studies aim to clarify the interplay between mitochondrial and peroxisomal pathways during neural development. Because my research centers on mechanisms underlying pediatric neurological diseases, it is well aligned with APMM’s mission to foster translational thinking. The opportunity to engage with clinicians and learn directly from patient cases would provide essential context for interpreting disease mechanisms and identifying clinically relevant research questions. By uncovering how these systems support brain maturation and how their disruption contributes to disease, my work will enhance our understanding of neurodevelopmental pathology and inform potential therapeutic strategies.