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Vandana Shashi, MBBS, MD

Professor of Pediatrics
Campus mail: 2080 GSRB, Durham, NC 27710
Phone: (919) 684-2036
Email address: vandana.shashi@duke.edu

Undiagnosed and rare diseases cause significant emotional and financial distress to patients who suffer from these and their families. Duke is one of seven clinical sites to be part of the NIH Undiagnosed Diseases Network (UDN). As a principal investigator for the Duke UDN site, I am involved in arranging detailed clinical evaluation for children and adults with undiagnosed diseases and in the interpretation of the genome sequencing that is performed as part of the initiative to obtain a diagnosis in these individuals. I also currently serve as the Co-Chair of the UDN steering committee. 

Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome: particular interests are in understanding the learning disabilities and the high risk of mental illness in these children as they get older, for which a research study is ongoing. As a clinician and researcher in this area, I run a clinic for children and adults with 22q11.2 deletion syndrome and am an investigator within the International Brain and Behavior Consortium for 22q11.2 deletion syndrome. The goal of the consortium is to conduct research to understand the genetic underpinnings of the serious mental illnesses such as schizophrenia that occur in ~25% of adolescents and adults with the condition.

Education and Training

  • Fellowship-Medical Genetics, Pediatrics, Wake Forest University, 1992 - 1995
  • Pediatric Residency, Pediatrics, Wake Forest University, 1990 - 1992
  • Senior Resident-Pediatric Neurology, Pediatrics, Kasturba Medical College (Manipal), 1986 - 1987
  • Pediatric Residency, Pediatrics, Kasturba Medical College (Manipal), 1983 - 1986
  • M.D., Kasturba Medical College (Manipal), 1986
  • M.B.B.S., Kasturba Medical College (Manipal), 1983

Publications

Splinter, Kimberly, David R. Adams, Carlos A. Bacino, Hugo J. Bellen, Jonathan A. Bernstein, Alys M. Cheatle-Jarvela, Christine M. Eng, et al. “Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease..” N Engl J Med 379, no. 22 (November 29, 2018): 2131–39. https://doi.org/10.1056/NEJMoa1714458.

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Greene, C., J. Kealy, M. M. Humphries, Y. Gong, J. Hou, N. Hudson, L. M. Cassidy, et al. “Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia..” Mol Psychiatry 23, no. 11 (November 2018): 2156–66. https://doi.org/10.1038/mp.2017.156.

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Tan, Queenie K-G, Heidi Cope, Rebecca C. Spillmann, Nicholas Stong, Yong-Hui Jiang, Marie T. McDonald, Jennifer A. Rothman, et al. “Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features..” Cold Spring Harb Mol Case Stud 4, no. 5 (October 2018). https://doi.org/10.1101/mcs.a003046.

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Zhao, Yingjie, Tingwei Guo, Ania Fiksinski, Elemi Breetvelt, Donna M. McDonald-McGinn, Terrence B. Crowley, Alexander Diacou, et al. “Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects..” Am J Med Genet A 176, no. 10 (October 2018): 2172–81. https://doi.org/10.1002/ajmg.a.40359.

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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes..” Am J Hum Genet 103, no. 3 (September 6, 2018). https://doi.org/10.1016/j.ajhg.2018.08.010.

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Demaerel, Wolfram, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, et al. “Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements..” Am J Hum Genet 103, no. 3 (September 6, 2018). https://doi.org/10.1016/j.ajhg.2018.08.011.

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Walley, Nicole M., Loren D. M. Pena, Stephen R. Hooper, Heidi Cope, Yong-Hui Jiang, Allyn McConkie-Rosell, Camilla Sanders, et al. “Characteristics of undiagnosed diseases network applicants: implications for referring providers..” Bmc Health Serv Res 18, no. 1 (August 22, 2018). https://doi.org/10.1186/s12913-018-3458-2.

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Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes..” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.

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McConkie-Rosell, Allyn, Stephen R. Hooper, Loren D. M. Pena, Kelly Schoch, Rebecca C. Spillmann, Yong-Hui Jiang, Heidi Cope, Heidi Undiagnosed Diseases Network, Christina Palmer, and Vandana Shashi. “Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?.” J Genet Couns 27, no. 4 (August 2018): 935–46. https://doi.org/10.1007/s10897-017-0193-5.

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Liu, Ning, Kelly Schoch, Xi Luo, Loren D. M. Pena, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, et al. “Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder..” Hum Mol Genet 27, no. 14 (July 15, 2018): 2454–65. https://doi.org/10.1093/hmg/ddy146.

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