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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

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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Chapman, DB, Shashi, V, and Kirse, DJ. "Case report: aplasia of the lacrimal and major salivary glands (ALSG)." Int J Pediatr Otorhinolaryngol 73, no. 6 (June 2009): 899-901.

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Shashi, V, Berry, MN, and Keshavan, MS. "Mechanistic approach to understanding psychosis risk in velocardiofacial syndrome." Current Pediatric Reviews 5, no. 2 (2009): 89-104.

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Prattichizzo, C, Macca, M, Novelli, V, Giorgio, G, Barra, A, Franco, B, Abdulla, F, Abramowicz, M, Amy, S, Schafer, I, Bankier, A, White, S, Barcina, MG, Bartoshesky, LE, Jenny, K, Beemer, FA, Benke, P, Betz, RC, Bianchini, G, Garavelli, L, Bigoni, S, Bird, L, Chibuk, J, Masser-Frye, D, Brunetti, N, Scarcella, A, Brunner, HG, Burn, J, Carmi, R, Castellan, C, Castelluccio, P, Castle, B, Chiong, MA, Cutiongco, EM, Collins, F, Couchon, E, Curry, A, Pastore, M, Curry, C, Swenerton, A, and Treisman, T et al. "Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients." Human Mutation 29, no. 10 (2008): 1237-1246.

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Entesarian, M, Dahlqvist, J, Shashi, V, Stanley, CS, Falahat, B, Reardon, W, and Dahl, N. "FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)." Eur J Hum Genet 15, no. 3 (March 2007): 379-382.

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