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Researcher | Research Overview

We study mitochondrial disorders, a large group of chronic disorders affecting mitochondria, the cellular machines that produce energy throughout the body. Our research is focused on the clinical presentation of children with mitochondrial disorders and their response to therapy with different medications and vitamins/supplements. 

Currently I am a principal investigator in a study examining the ability of the drug dichloroacetate (DCA) to treat children with mitochondrial disorders complicated by lactic acidemia, a condition in which excess lactate builds up in the blood and spinal fluid. DCA reduces lactate levels and thus has the potential to alleviate disease symptoms. I evaluate children in clinic, enroll them in the protocol and follow them in the Mitochondrial Program while they are being maintained on DCA.

I am also involved in evaluation and treatment of patients with rare neurometabolic disorders. We study their clinical presentations and develop protocols for the compassionate use of experimental drugs.  I am a principal investigator on the protocol of treatment of patients with citrate transporter deficiency with Triheptanoin. I am also a co-investigator on the protocol of the intrathecal infusions of cyclodextrine in one patient with Niemann Pick type C.

Researcher | Research Background

Irina Anselm received her MD from St. Petersburg Pediatric Medical Academy. She completed an internship and residency in pediatrics at UMASS Medical Center and a fellowship in child neurology at Floating Hospital for Children at the New England Medical Center.


Researcher | Publications