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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

Hoogeveen-Westerveld, M, Wentink, M, van den Heuvel, D, Mozaffari, M, Ekong, R, Povey, S, den Dunnen, JT, Metcalfe, K, Vallee, S, Krueger, S, Bergoffen, J, Shashi, V, Elmslie, F, Kwiatkowski, D, Sampson, J, Vidales, C, Dzarir, J, Garcia-Planells, J, Dies, K, Maat-Kievit, A, van den Ouweland, A, Halley, D, and Nellist, M. "Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex." Hum Mutat 32, no. 4 (April 2011): 424-435.

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Veerapandiyan, A, Blalock, D, Ghosh, S, Ip, E, Barnes, C, and Shashi, V. "The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome." Laryngoscope 121, no. 4 (April 2011): 732-737.

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Scurr, I, Wilson, L, Lees, M, Robertson, S, Kirk, E, Turner, A, Morton, J, Kidd, A, Shashi, V, Stanley, C, Berry, M, Irvine, AD, Goudie, D, Turner, C, Brewer, C, and Smithson, S. "Cantú syndrome: report of nine new cases and expansion of the clinical phenotype." American Journal of Medical Genetics. Part A 155A, no. 3 (March 2011): 508-518.

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Veerapandiyan, A, Gallentine, WB, Schoch, K, and Shashi, V. "Epilepsy in trisomy 7 mosaicism: A case report and literature review." Journal of Pediatric Neurology 9, no. 1 (2011): 63-68.

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Veerapandiyan, A, Chinn, IK, Schoch, K, Maloney, KA, and Shashi, V. "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.

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Veerapandiyan, A, Shashi, V, Jiang, Y-H, Gallentine, WB, Schoch, K, and Smith, EC. "Pseudometabolic presentation of dystrophinopathy due to a missense mutation." Muscle Nerve 42, no. 6 (December 2010): 975-979.

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Shashi, V, Keshavan, M, Kaczorowski, J, Schoch, K, Lewandowski, KE, McConkie-Rosell, A, Hooper, SR, and Kwapil, TR. "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): 535-544.

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Shashi, V, Howard, TD, Keshavan, MS, Kaczorowski, J, Berry, MN, Schoch, K, Spence, EJ, and Kwapil, TR. "COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome." Psychiatry Res 178, no. 2 (July 30, 2010): 433-436.

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Shashi, V, Kwapil, TR, Kaczorowski, J, Berry, MN, Santos, CS, Howard, TD, Goradia, D, Prasad, K, Vaibhav, D, Rajarethinam, R, Spence, E, and Keshavan, MS. "Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome." Psychiatry Research 181, no. 1 (January 2010): 1-8.

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Shashi, V, and Berry, MN. "Velocardiofacial syndrome (Chromosome 22q11.2 deletion syndrome) as a model of schizophrenia." In Secondary Schizophrenia, 309-327. January 1, 2010.

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