Dr. Arboleda-Velasquez’s research is focused on the genetics and pathobiology of neurodegenerative diseases of the brain and the retina.
Dr. Arboleda-Velasquez’s early career work on CADASIL, an inherited form of stroke and vascular dementia, took him from the clinical characterization of two families in his home country of Colombia to Harvard Medical School, where he conducted molecular studies of mutant Notch 3 receptors in culture systems. He also generated novel knock-in mouse models that replicated a genotype-phenotype correlation first observed in his CADASIL patients, and leveraged inducible cell ablation studies in mice to provide evidence that pericytes help regulate microvascular stability in adult neural tissues. Dr. Arboleda-Velasquez recently took his CADASIL work towards translational applications by characterizing blood biomarkers linked to the pathobiology of the disease and by establishing the preclinical feasibility of a treatment modality based on Notch 3 signaling normalization using therapeutic antibodies.