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Researcher | Research Overview

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The Genetics of Epilepsy and Related Neurological Disorders:  We have undertaken a long-term project to understand the genetics of epilepsy. We are currently focusing on malignant migrating partial epilepsy of infancy and other severe early-onset epilepsies, including infantile spasms, Ohtahara Syndrome and Dravet Syndrome.

PCDH19-Related Epilepsy Registry: In collaboration with the PCDH19 Alliance, our group at Boston Children's Hospital has created a registry for individuals with PCDH19-Related Epilepsy. Information will be used to help researchers gain a better understanding of PCDH19-Related Epilepsy and ultimately develop more effective treatment options. Additionally, participants in this Registry may learn more quickly about clinical trials when they become available. 

Developing zebrafish models of epilepsy: We are developing models in the zebrafish system to study novel genes in epilepsy but also as a high-throughput model to be used for the screening of potential targeted therapeutics for genetic epilepsies. One of the chief goals of the program is to bring genetic discovery from the lab back to patients in the form of clinical trials.

Epilepsy Genetics Initiative (EGI):  The EGI is a centralized database created to hold and re-analyze genetic data from individuals with epilepsy who have had whole exome sequencing with the hope that genetically undiagnosed cases of epilepsy will benefit from the rapid growth of knowledge in the genetics of epilepsy.


Researcher | Research Background

Dr. Annapurna Poduri received her BA in Biology from Harvard University, her MD from the University of Pennsylvania School of Medicine, and her MPH from the Harvard School of Public Health.  She completed her pediatric training at Boston Children’s Hospital, child neurology residency at the Children’s Hospital of Philadelphia, and returned to Boston for a fellowship in clinical neurophysiology at Boston Children’s Hospital.  She went on to pursue training in neurogenetics in the clinic and through a post-doctoral fellowship with Dr. Christopher Walsh.  Dr. Poduri began her independent research program at Boston Children’s Hospital in 2013 focusing on the genetics of epilepsy.  She has been awarded the prestigious Dreifuss-Penry Epilepsy Award from the American Academy of Neurology and the Derek Denny-Brown Young Neurological Scholar Award from the American Neurological Association in 2015. Learn more about Epilepsy Genetics at Boston Children’s Hospital.

Selected Publications

  1. Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BFD, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12;74(1):41-48. PMID: 22500628. PMCID: PMC3460551. 
  2. Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in human brain. Cell. 2012 Oct 26. PMID: 23101622. PMCID: PMC3567441.
  3. Poduri A, Evrony GD, Cai X, Walsh CA.  Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 5;341(6141):1237758. PMID: 23828942. PMCID: PMC3909954.
  4. Shain C, Ramgopal S, Parulkar I, Faillil Z, Knowlton R, Poduri A, EPGP Investigators.  Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Aug;54(8):1368-75. PMID: 23750890. PMCID: PMC3851304.
  5. Epi4K Consortium (includes Poduri A); Epilepsy Phenome/Genome Project (includes Poduri A, Shain C, Yuskaitis CJ). Nature. 2013 Sep 12;501(7466):217-21. PMID: 23934111. PMCID: PMC3773011.
  6. Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec;74(6):873-82. PMID: 24596948. PMCID: PMC4031329.
  7. Olson HE, 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 W-H, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu B-L, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun;75(6):943-58. PMID: 24811917.
  8. Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA. Somatic Mutations in Cerebral Cortical Malformations. N Engl J Med. 2014 Aug 21;371(8):733-743.  PMID: 25140959. PMCID: PMC4274952.
  9. D’Gama AM, Geng Y, Couto JA, Martin, B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, B Barry BJ, Kwiatkowski DJ, Vinters HV, Shendure J, Mathern GW, Walsh CA, Poduri A.  Mammalian Target of Rapamycin Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia.  Ann Neurol. 2015 Apr;77(4):720-5.  PMID: 25599672.
  10. Kinney HC*, Poduri A*, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD (*equal contributors). Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. J Neuropathol Exp Neurol. 2016 Sep 9. PubMed PMID: 27612489.

Researcher | Publications