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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, Srirangam Muddasani, Cesar C. Santos, Margaret N. Berry, Thomas R. Kwapil, Eve Lewandowski, and Matcheri S. Keshavan. “Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome.” Neuroimage 21, no. 4 (April 2004): 1399–1406. https://doi.org/10.1016/j.neuroimage.2003.12.004.

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Fan, H., J. K. Booker, S. E. McCandless, V. Shashi, and R. A. Farber. “Mosaicism for FMR1 gene full mutation and deletion in a fragile X female.” In American Journal of Human Genetics, 73:585–585. UNIV CHICAGO PRESS, 2003.

Scholars@Duke

Shashi, V., J. R. White, M. J. Pettenati, S. K. Root, and W. L. Bell. “Ring chromosome 17: phenotype variation by deletion size.” Clin Genet 64, no. 4 (October 2003): 361–65. https://doi.org/10.1034/j.1399-0004.2003.00146.x.

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Shashi, V., M. N. Berry, and M. H. Hines. “Vasomotor instability in neonates with chromosome 22q11 deletion syndrome.” American Journal of Medical Genetics 121 A, no. 3 (September 1, 2003): 231–34.

Scholars@Duke

Shashi, Vandana, Margaret N. Berry, and Michael H. Hines. “Vasomotor instability in neonates with chromosome 22q11 deletion syndrome.” Am J Med Genet A 121A, no. 3 (September 1, 2003): 231–34. https://doi.org/10.1002/ajmg.a.20219.

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Chauvenet, Allen R., Vandana Shashi, Clifford Selsky, Elaine Morgan, Joanne Kurtzberg, Beverly Bell, and Beverly Pediatric Oncology Group Study. “Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study.” J Pediatr Hematol Oncol 25, no. 4 (April 2003): 316–20. https://doi.org/10.1097/00043426-200304000-00010.

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Kwapil, T. R., V. Shashi, M. S. Keshavan, K. E. Lewandowski, and M. N. Berry. “Schizophrenic-like deficits in nonpsychotic children and adolescents with 22Q11 deletion syndrome.” In Schizophrenia Research, 60:83–84. Elsevier BV, 2003. https://doi.org/10.1016/s0920-9964(03)80635-7.

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Shashi, V., M. N. Berry, and T. R. Kwapil. “A study of the neuropsychological manifestations in children with 22q11 deletion syndrome.” In American Journal of Human Genetics, 71:268–268. UNIV CHICAGO PRESS, 2002.

Scholars@Duke

Kap-Herr, C. G. von, M. J. Pettenati, and V. Shashi. “Further evidence of a tumor suppressor gene at 7q22 in malignant myeloid diseases.” In American Journal of Human Genetics, 71:199–199. UNIV CHICAGO PRESS, 2002.

Scholars@Duke

Daniel, Elena, Elizabeth A. McCurdy, Vandana Shashi, and William F. McGuirt. “Ectodermal dysplasia: otolaryngologic manifestations and management.” Laryngoscope 112, no. 6 (June 2002): 962–67. https://doi.org/10.1097/00005537-200206000-00005.

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