We see patients with undiagnosed and very rare disorders who have struggled to learn more about their conditions.

EDUCATION

Medical School

  • St. Petersburg Pediatric Medical Academy , 1984 , St. Petersburg , Russia

Internship

  • St. Petersburg Pediatric Medical Academy , 1985 , St. Petersburg , Russia

Internship

  • St. Petersburg Pediatric Medical Academy , 1986 , St. Petersburg , Russia

Residency

  • University of Massachusetts Medical Center , 1995 , Worcester , MA

Fellowship

  • New England Medical Center , 1998 , Boston , MA

Philosophy of Care

As a child, I always knew I wanted to be a physician. I found my passion for child neurology during my last years of medical school in Saint Petersburg, Russia. After immigrating to the United States, I continued training in child neurology, finally joining the Neurology Department at Boston Children’s Hospital in 1998.

I always had an interest in genetic and hereditary disorders, but later developed a special interest in mitochondrial diseases. The complexity and variability of these disorders presents a challenge, but it is also an exciting field with many innovative studies currently underway. As Director of the Mitochondrial Program, I apply the latest techniques to help our patients and their families manage their disorders. One of my top concerns is improving the quality of life for patients through the study and development of new drugs and therapies.

My interest in neurometabolic and neurodegenerative disorders led me to develop a joint Neurometabolic Program with the Division of Metabolism. We see patients with undiagnosed and very rare disorders who have struggled to learn more about their conditions. New diagnostic methods allow us to provide answers for many of these families, as well as genetic counseling and special or experimental treatments.

PROFESSIONAL HISTORY

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.

CERTIFICATIONS

  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology

PUBLICATIONS

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  1. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. View abstract
  2. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. View abstract
  3. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View abstract
  4. First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794. View abstract
  5. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. View abstract
  6. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. View abstract
  7. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418. View abstract
  8. Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. . 2018 12; 176(12):2768-2776. View abstract
  9. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View abstract
  10. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View abstract
  11. Response to Newman et al. Genet Med. 2017 12; 19(12). View abstract
  12. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12). View abstract
  13. Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. Neuromuscul Disord. 2017 Sep; 27(9):848-851. View abstract
  14. GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. JIMD Rep. 2018; 38:61-65. View abstract
  15. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View abstract
  16. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. View abstract
  17. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View abstract
  18. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113. View abstract
  19. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View abstract
  20. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View abstract
  21. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111. View abstract
  22. Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016 Feb; 31(2):190-4. View abstract
  23. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701. View abstract
  24. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015 Feb; 87(2):141-7. View abstract
  25. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43. View abstract
  26. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. View abstract
  27. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul; 50(7):463-72. View abstract
  28. Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90. View abstract
  29. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. . 2011 Dec; 155A(12):2956-63. View abstract
  30. Angelman syndrome: Mutations influence features in early childhood. . 2011 Jan; 155A(1):81-90. View abstract
  31. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. . 2010 Aug; 152A(8):1994-2001. View abstract
  32. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30. View abstract
  33. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1. View abstract
  34. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8. View abstract
  35. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4. View abstract
  36. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313. View abstract
  37. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4. View abstract
  38. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9. View abstract
  39. Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7. View abstract
  40. Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol. 2001 Mar; 16(3):212-5. View abstract