Dr. Ahrens-Nicklas is Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia. For most inborn errors of metabolism (IEM), it is not known how the biochemical defect leads to neurologic symptoms. Yet, patients often have significant, untreatable central nervous system (CNS) disease. Dr. Ahrens-Nicklas and her lab team aim to establish a mechanistic understanding of these disorders, in order to develop novel therapies that prevent or reverse their neurologic manifestations.Dr. Ahrens-Nicklas and colleagues discovered that neuronal networks underlying learning and memory are disrupted very early in CLN3 disease, a progressive neurologic lysosomal storage disorder and the most common cause of pediatric dementia. Functional circuit defects arise before any lysosomal storage or cell death is detectable in the brain. The team is working on developing therapies aimed at stopping or reversing these pathologic circuit changes.  Dr. Ahrens-Nicklas’ research also focuses on gene discovery, clinical characterization, and targeted-therapy development for rare and novel inherited disorders of the heart and brain.