Irina A. Anselm, MD, is Director of the Mitochondrial Program and Co-Director of the Neurometabolic Program at Boston Children’s Hospital. A pediatric neurologist with special interest in genetics and hereditary disorders, she cares for children with neurometabolic, neurodegenerative, and mitochondrial disorders. She serves as the Department of Neurology’s clinical expert for Boston Children’s Precision Medicine Service. Her research focuses on the genetics, diagnosis, and management of these disorders, which range from mild to devastating. She is the Principal Investigator of a study investigating the use of experimental drug dichloroacetate (DCA) as a treatment for chronic elevation of blood lactate levels resulting from mitochondrial disorders. She is a Co-investigator on a multicenter trial for treatment of patients with mitochondrial disorders with intractable seizures. She also is a Co-investigator on a natural history study of patients with creatine transporter deficiency. She has a special interest in disorders of neurotransmitter metabolism and works closely with a company that developed gene therapy for one of these disorders. Major publications include 35 original reports in peer-reviewed journals and 4 chapters, and she is a reviewer for the Journal of Pediatric Neurology, Current Pediatric Reviews, and the Journal of Child Neurology.
