Research

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Irina  Anselm, MD

Irina Anselm MD
Department:
Neurology Research
Hospital Title:
Assistant in Neurology
Academic Title:
Assistant Professor of Neurology, Harvard Medical School
Research Focus Area:
Mitochondrial Disorders and Neurometabolic Disorders

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.

About Irina Anselm

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.

Publications

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  1. Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. 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.
  2. Dy ME, Chang FC, Jesus SD, Anselm I, Mahant N, Zeilman P, Rodan LH, Foote KD, Tan WH, Eskandar E, Sharma N, Okun MS, Fung VS, Waugh JL. Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 Jul; 31(8):1027-35.
  3. Calderwood L, Holm IA, Teot LA, Anselm I. 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.
  4. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701.
  5. van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015 Feb; 87(2):141-7.
  6. Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. 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.
  7. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
  8. van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul; 50(7):463-72.
  9. Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT. 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.
  10. Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
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  12. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
  13. Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
  14. Parikh S, Saneto R, Falk MJ, Anselm I, Cohen BH, Haas R, Medicine Society TM. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30.
  15. Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT. Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 4; 73(5):400-1.
  16. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. 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.
  17. Anselm IA, Coulter DL, Darras BT. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4.
  18. Anselm IA, Darras BT. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313.
  19. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4.
  20. Anselm IA, Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D. 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.
  21. Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG. Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7.
  22. Rosman NP, Anselm I, Bhadelia RA. Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol. 2001 Mar; 16(3):212-5.
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