Staff Editor & Staff Writer
Rochester, Minnesota, USA
Dr. Judit Perez-Ortiz is a Puerto Rican resident physician in Pediatric Neurology at the Mayo Clinic, Rochester, MN. She is currently working with Dr. Eva Morava’s group and is interested in the neurological deficits seen in Congenital Disorders of Glycosylation, where ataxia is a common finding. She earned her PhD in Neuroscience at the University of Minnesota in 2016 and completed her MD training in 2018.
Her PhD work in Dr. Harry Orr’s lab used mouse models of SCA1 to investigate therapeutic targets, particularly PKA kinase regulation of Ataxin-1 Serine 776 phosphorylation in the cerebellum. Her subsequent postdoctoral research at the University of Kansas with Dr. Russell Swerdlow utilized a genetic mouse model of cognitive neurodegeneration to test the therapeutic potential of manipulating bioenergetics. Her ultimate goal is to utilize our knowledge of rare neurological diseases to develop treatments that improve the quality of life of patients and their families.