Irina A. Anselm, MD
Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
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Irina A. Anselm, MD
Neurologist, Department of Neurology
Assistant Professor of Neurology, Harvard Medical School
Medical Services
Languages
English
Russian
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
Russia
Fellowship
New England Medical Center
1998
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
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.
Approach to 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.
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.
Publications
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. View Abstract
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. View Abstract
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. View Abstract
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. View Abstract
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. View Abstract
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. View Abstract
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. View Abstract
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. View Abstract
First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. View Abstract
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. View Abstract
Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. View Abstract
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. View Abstract
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. View Abstract
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. View Abstract
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. View Abstract
Response to Newman et al. View Abstract
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. View Abstract
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. View Abstract
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. View Abstract
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. View Abstract
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. View Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. View Abstract
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. View Abstract
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. View Abstract
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. View Abstract
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. View Abstract
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. View Abstract
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. View Abstract
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. View Abstract
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. View Abstract
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. View Abstract
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. View Abstract
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. View Abstract
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. View Abstract
Angelman syndrome: Mutations influence features in early childhood. View Abstract
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. View Abstract
A modern approach to the treatment of mitochondrial disease. View Abstract
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. View Abstract
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. View Abstract
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. View Abstract
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. View Abstract
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. View Abstract
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. View Abstract
Childhood primary angiitis of the central nervous system: two biopsy-proven cases. View Abstract
Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. View Abstract
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