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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

Cooper, Gregory M., Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles Williams, et al. “A copy number variation morbidity map of developmental delay.” Nat Genet 43, no. 9 (August 14, 2011): 838–46. https://doi.org/10.1038/ng.909.

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Young, Andrea S., Vandana Shashi, Kelly Schoch, Thomas Kwapil, and Stephen R. Hooper. “Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome.” Asian J Psychiatr 4, no. 2 (June 1, 2011): 119–24. https://doi.org/10.1016/j.ajp.2011.03.002.

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Hoogeveen-Westerveld, Marianne, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, et al. “Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.” Hum Mutat 32, no. 4 (April 2011): 424–35. https://doi.org/10.1002/humu.21451.

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Veerapandiyan, Aravindhan, David Blalock, Srija Ghosh, Edward Ip, Craig Barnes, and Vandana Shashi. “The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.” Laryngoscope 121, no. 4 (April 2011): 732–37. https://doi.org/10.1002/lary.21449.

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Scurr, Ingrid, Louise Wilson, Melissa Lees, Stephen Robertson, Edwin Kirk, Anne Turner, John Morton, et al. “Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.” Am J Med Genet A 155A, no. 3 (March 2011): 508–18. https://doi.org/10.1002/ajmg.a.33885.

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Veerapandiyan, A., W. B. Gallentine, K. Schoch, and V. Shashi. “Epilepsy in trisomy 7 mosaicism: A case report and literature review.” Journal of Pediatric Neurology 9, no. 1 (March 1, 2011): 63–68. https://doi.org/10.3233/JPN-2010-0442.

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Veerapandiyan, Aravindhan, Ivan Kingyue Chinn, Kelly Schoch, Kristin A. Maloney, and Vandana Shashi. “Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.” Eur J Med Genet 54, no. 1 (January 2011): 63–66. https://doi.org/10.1016/j.ejmg.2010.09.004.

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Veerapandiyan, Aravindhan, Vandana Shashi, Yong-Hui Jiang, William Brian Gallentine, Kelly Schoch, and Edward Clinton Smith. “Pseudometabolic presentation of dystrophinopathy due to a missense mutation.” Muscle Nerve 42, no. 6 (December 2010): 975–79. https://doi.org/10.1002/mus.21823.

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Shashi, Vandana, Matcheri Keshavan, Jessica Kaczorowski, Kelly Schoch, Kathryn E. Lewandowski, Allyn McConkie-Rosell, Stephen R. Hooper, and Thomas R. Kwapil. “Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling.” J Genet Couns 19, no. 5 (October 2010): 535–44. https://doi.org/10.1007/s10897-010-9309-x.

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Shashi, Vandana, Timothy D. Howard, Matcheri S. Keshavan, Jessica Kaczorowski, Margaret N. Berry, Kelly Schoch, Edward J. Spence, and Thomas R. Kwapil. “COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome.” Psychiatry Res 178, no. 2 (July 30, 2010): 433–36. https://doi.org/10.1016/j.psychres.2010.04.048.

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