Research

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Heather Olson, MD

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Department:
Neurology Research
Hospital Title:
Assistant in Neurology
Academic Title:
Instructor in Neurology, Harvard Medical School
Research Focus Area:
NeurologyEpilepsy

Research Overview

Dr. Olson’s research is in the area of Epilepsy Genetics including understanding the genetic causes of early life epilepsy syndromes and phenotype-genotype associations.  She works closely with colleagues in the Epilepsy Genetics Program including mentor Annapurna Poduri, M.D. M.P.H., Beth Sheidley, M.S. C.G.C., Lacey Smith, M.S. C.G.C., Christelle Moufawad El Achkar, M.D., McKenna Kelley, Rebecca Pinsky and others.  She is also director of the CDKL5 Center of Excellence, a combined clinical and research program. A summary of ongoing projects includes the following:

o          Genetics of Ohtahara Syndrome and Infantile Spasms, including through whole exome sequencing

o          CDKL5 clinic based research project, in collaboration with two other Centers of Excellence and the International Foundation for CDKL5 research

o          Genotype-phenotype correlations in candidate and known epilepsy genes, and collaboration with basic scientists for related functional analysis of variants

o          Evaluation of clinical genetic testing approaches in Epilepsy, including copy number variation, gene panels and whole exome sequencing

o          Pilot study evaluating for genetic causes of Febrile Infection Related Epilepsy Syndrome (FIRES)

o          Clinical trial for ganaxolone in PCDH19 related epilepsy, registry for PCDH19 related epilepsy


About Heather Olson

Dr. Olson completed medical school training at Mayo Medical School, including one additional year to complete a certificate program in clinical research while doing neuroscience research in the laboratory of Anthony Windebank, MD.  She completed all of her post-graduate medical training in Boston including training in Pediatric Neurology, Epilepsy and Clinical Neurophysiology and Epilepsy Genetics.  Since joining the faculty at Boston Children’s Hospital in 2013, she works as a clinician and clinical researcher with a focus on Neurogenetic disorders and Epilepsy.  Additionally she sees patients along with colleagues Drs. Benson and Gorman in their joint Inflammatory Epilepsy Program. Her research is in the field of Epilepsy Genetics, particularly genetics of early onset epileptic encephalopathies and infantile spasms.  Additionally, she is working towards a Master of Science degree in Epidemiology through the Harvard T.H. Chan School of Public Health, with a focus on Genetic Epidemiology and Statistical Genetics.  She is grateful for current and past research support that she has received through NINDS (K12), the International Foundation for CDKL5 Research, Child Neurology Foundation (Infantile Spasms Award), the Dravet Syndrome Foundation, Aaron’s Ohtahara, the PCDH19 Alliance, and the RE Children’s Project.  Her hope is that as the genetics of epilepsy is better understood, targeted therapies will lead to an improvement in care and quality of life.

Publications

Publications powered by Harvard Catalyst Profiles
  1. Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 Sep; 170(9):2265-73.
  2. Aravamuthan BR, Sánchez Fernández I, Zurawski J, Olson H, Gorman M, Takeoka M. Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. Neurol Neuroimmunol Neuroinflamm. 2015 Oct; 2(5):e150.
  3. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66.
  4. El Achkar CM, Olson HE, Poduri A, Pearl PL. The genetics of the epilepsies. Curr Neurol Neurosci Rep. 2015 Jul; 15(7):39.
  5. Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A. 2015 Sep; 167A(9):2017-25.
  6. Benson LA, Olson H, Gorman MP. Evaluation and treatment of autoimmune neurologic disorders in the pediatric intensive care unit. Semin Pediatr Neurol. 2014 Dec; 21(4):284-90.
  7. Olson HE, Poduri A, Pearl PL. Genetic forms of epilepsies and other paroxysmal disorders. Semin Neurol. 2014 Jul; 34(3):266-79.
  8. Thome-Souza S, Kadish NE, Ramgopal S, Sánchez Fernández I, Bergin AM, Bolton J, Harini C, Libenson M, Olson H, Peters J, Poduri A, Rotenberg A, Takeoka M, Kothare SV, Kapur K, Bourgeois BF, Loddenkemper T. Safety and retention rate of rufinamide in 300 patients: a single pediatric epilepsy center experience. Epilepsia. 2014 Aug; 55(8):1235-44.
  9. Orbach D, Storey A, Morash D, Estroff J, Smith E, Trenor C, Olson H. E-066 pathogenesis of dural sinus malformations as demonstrated by fetal imaging: a decision-making crucible for parents and clinicians. J Neurointerv Surg. 2014 Jul; 6 Suppl 1:A69-70.
  10. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
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  12. Olson HE, Shen Y, Poduri A, Gorman MP, Dies KA, Robbins M, Hundley R, Wu B, Sahin M. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50.
  13. Olson HE, Loddenkemper T, Vendrame M, Poduri A, Takeoka M, Bergin AM, Libenson MH, Duffy FH, Rotenberg A, Coulter D, Bourgeois BF, Kothare SV. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011 Feb; 20(2):344-8.
  14. Olson HE, Rooney GE, Gross L, Nesbitt JJ, Galvin KE, Knight A, Chen B, Yaszemski MJ, Windebank AJ. Neural stem cell- and Schwann cell-loaded biodegradable polymer scaffolds support axonal regeneration in the transected spinal cord. Tissue Eng Part A. 2009 Jul; 15(7):1797-805.
  15. Olson HE, Lechpammer M, Prabhu SP, Ciarlini PD, Poduri A, Gooty VD, Anjum MW, Gorman MP, Loddenkemper T. Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. Epilepsia. 2013 Oct; 54(10):1753-60.
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