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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

Shashi, Vandana, Thomas R. Kwapil, Jessica Kaczorowski, Margaret N. Berry, Cesar S. Santos, Timothy D. Howard, Dhruman Goradia, et al. “Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.” Psychiatry Res 181, no. 1 (January 30, 2010): 1–8. https://doi.org/10.1016/j.pscychresns.2009.07.003.

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Shashi, V., and M. N. Berry. “Velocardiofacial syndrome (Chromosome 22q11.2 deletion syndrome) as a model of schizophrenia.” In Secondary Schizophrenia, 309–27, 2010. https://doi.org/10.1017/CBO9780511789977.025.

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Shashi, V., M. N. Berry, and M. S. Keshavan. “Mechanistic approach to understanding psychosis risk in velocardiofacial syndrome.” Current Pediatric Reviews 5, no. 2 (August 18, 2009): 89–104. https://doi.org/10.2174/157339609788185703.

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Chapman, D Brandon, Vandana Shashi, and Daniel J. Kirse. “Case report: aplasia of the lacrimal and major salivary glands (ALSG).” Int J Pediatr Otorhinolaryngol 73, no. 6 (June 2009): 899–901. https://doi.org/10.1016/j.ijporl.2009.03.004.

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Prattichizzo, Clelia, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra, Brunella Franco, and Brunella Oral-Facial-Digital Type I (OFDI) Collaborative Group. “Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.” Hum Mutat 29, no. 10 (October 2008): 1237–46. https://doi.org/10.1002/humu.20792.

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Entesarian, Miriam, Johanna Dahlqvist, Vandana Shashi, Christy S. Stanley, Babak Falahat, William Reardon, and Niklas Dahl. “FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).” Eur J Hum Genet 15, no. 3 (March 2007): 379–82. https://doi.org/10.1038/sj.ejhg.5201762.

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Botzenhart, Elke M., Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, et al. “Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.” Hum Mutat 28, no. 2 (February 2007): 204–5. https://doi.org/10.1002/humu.9476.

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Lewandowski, Kathryn Eve, Vandana Shashi, Peggy M. Berry, and Thomas R. Kwapil. “Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.” Am J Med Genet B Neuropsychiatr Genet 144B, no. 1 (January 5, 2007): 27–36. https://doi.org/10.1002/ajmg.b.30379.

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Shashi, V., M. S. Keshavan, T. D. Howard, M. N. Berry, M. J. Basehore, E. Lewandowski, and T. R. Kwapil. “Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.” Clin Genet 69, no. 3 (March 2006): 234–38. https://doi.org/10.1111/j.1399-0004.2006.00569.x.

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Fan, Hongxin, Jessica K. Booker, Shawn E. McCandless, Vandana Shashi, Alison Fleming, and Rosann A. Farber. “Mosaicism for an FMR1 gene deletion in a fragile X female.” Am J Med Genet A 136, no. 2 (July 15, 2005): 214–17. https://doi.org/10.1002/ajmg.a.30807.

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