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Research Overview

访问the Poduri Laboratory

癫痫和相关神经系统疾病的遗传学：我们已经进行了一个长期项目来了解癫痫的遗传学。我们目前正在关注恶性迁移的婴儿期和其他严重的早期发作癫痫，包括婴儿痉挛，Ohtahara综合征和Dravet综合征。

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.

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波士顿儿童医院的癫痫遗传学欧宝彩票平台。

选定的出版物

  1. poduri a，Evrony GD，Cai X，Elhosary PC，Beroukhim R，Lehtinen MK，Hills LB，Heinzen EL，Hill A，Hill A，Hill RS，Barry BJ，Bourgeois BFD，Riviello JJ，Riviello JJ，Barkovich AJ，Barkovich AJ，Black PM，Ligon KL，Ligon KL，Walsh Ca.AKT3的体细胞激活会导致半球发育性脑畸形。神经元。2012年4月12日； 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，Gilmore EC，poduri aSingl公园PJ,沃尔什CAe-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调查人员。多毛糖相关癫痫：癫痫现象/基因组项目的一项多中心表型研究。癫痫病。2013年8月； 54（8）：1368-75。PMID：23750890。PMCID：PMC3851304。
  5. Epi4K Consortium (includespoduri 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，Ho E，Irons M，Jacobsen M，Jacobsen CM，James P，Kothare S，Kothare S，Khwaja o o khwaja o o，Lipton J，Loddenkemper T，Markowitz J，Maski K，Megerian JT，Neilan E，Raffalli PC，Robbins M，Roberts A，Roe E，Roe E，Rollins C，Sahin M，Sahin M，Sarco D，Sarco D，Sarco D，Schonwald A，Schonwald A，Smith SEN SMITH SE，SOIL J，Stoler J，Stoler J，Stoler J，Stoler J，StolerJM，Takeoka M，Tan W-H，Torres AR，Tsai P，Urion DK，Weissman L，Wolff R，Wu B-L，Miller DT，poduri a。拷贝数变化在临床癫痫中起重要作用。Ann Neurol。2014年6月； 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，Shendure J，Mathern GW，Walsh CA，Walsh CA，Walsh CA，Walsh CA，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（*同等贡献者）。在小儿年龄频谱中，海马形成和突然出乎意料的死亡。J Neuropathol Exp Neurol。2016年9月9日。PubMedPMID：27612489。

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