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Researcher | 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:

  • Genetics of Ohtahara Syndrome and Infantile Spasms, including through whole exome sequencing
  • CDKL5 clinic based research project, in collaboration with two other Centers of Excellence and the International Foundation for CDKL5 research
  • Genotype-phenotype correlations in candidate and known epilepsy genes, and collaboration with basic scientists for related functional analysis of variants
  • Evaluation of clinical genetic testing approaches in Epilepsy, including copy number variation, gene panels and whole exome sequencing
  • Pilot study evaluating for genetic causes of Febrile Infection Related Epilepsy Syndrome (FIRES)
  • Clinical trial for ganaxolone in PCDH19 related epilepsy, registry for PCDH19 related epilepsy

Researcher | Research Background

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.

Links:

Clinician Profile Page

Neurogenetics Webpage

 

Epilepsy Genetics Program

Brain Development and Genetics Program

Advanced Fetal Care Center Websites

Researcher | Publications