Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.
Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.
Dr. Akizu's research focuses on cerebellar ataxias and motoneuron disorders, with the specific goals of uncovering the particularities of these neuronal types, understanding disease mechanisms, and exploring treatment options.
Dr. Tricoli's research involves developing a new generation of lentiviral vectors that will prove to limit toxicity and improve activity of the ARSA enzyme, extending the efficacy of and eligibility for gene therapy in metachromatic leukodystrophy, a devastating childhood lysosomal storage disease.
CHOP researchers used a vector to edit a single base mutation in Hurler Syndrome, halting progression of a disease that causes irreversible damage before birth.
This week’s roundup features projections of the spread of COVID-19 and novel findings on gene therapy to treat the whole brain. This and more In The News.
