Skip to main content

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, V., M. N. Berry, C. Santos, and M. J. Pettenati. “Partial duplication of 4q12q13 leads to a mild phenotype.” Am J Med Genet 86, no. 1 (September 3, 1999): 51–53.

Scholars@Duke

Shashi, V., D. Pallos, M. J. Pettenati, J. R. Cortelli, J. P. Fryns, C. von Kap-Herr, and T. C. Hart. “Genetic heterogeneity of gingival fibromatosis on chromosome 2p.” J Med Genet 36, no. 9 (September 1999): 683–86.

Scholars@Duke

Hart, T. C., J. A. Price, P. L. Bobby, M. J. Pettenati, V. Shashi, C. Von Kap Herr, and T. E. Van Dyke. “Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22.” Genomics 56, no. 2 (March 1, 1999): 233–35. https://doi.org/10.1006/geno.1998.5624.

Full Text

Shashi, V., D. Berry, T. H. Stamper, and M. Pettenati. “A further case of choanal atresia in the deletion (9p) syndrome.” Am J Med Genet 80, no. 4 (December 4, 1998): 440.

Scholars@Duke

Robson, W. L., V. Shashi, S. Nagaraj, and J. P. Nørgaard. “Water intoxication in a patient with the Prader-Willi syndrome treated with desmopressin for nocturnal enuresis.” J Urol 157, no. 2 (February 1997): 646–47.

Scholars@Duke

Gaffey, M. J., H. F. Frierson, J. C. Iezzoni, S. E. Mills, P. B. Clement, D. J. Gersell, V. Shashi, C. VonKapHerr, and R. H. Young. “Ovarian granulosa cell tumors with bizarre nuclei: An immunohistochemical analysis with fluorescence in situ hybridization documenting trisomy 12 in the bizarre component (vol 9, pg 308, 1996).” Modern Pathology 9, no. 7 (July 1, 1996): 803–803.

Scholars@Duke

Shashi, V., W. L. Golden, P. S. Allinson, S. H. Blanton, C. von Kap-Herr, and T. E. Kelly. “Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.” Am J Hum Genet 58, no. 6 (June 1996): 1231–38.

Scholars@Duke

Gaffey, M. J., H. F. Frierson, J. C. Iezzoni, S. E. Mills, P. B. Clement, D. J. Gersel, V. Shashi, C. Von Kap-Herr, and R. H. Young. “Ovarian granulosa cell tumors with bizarre nuclei: An immunhistochemical analysis.” Modern Pathology 9, no. 3 (April 22, 1996): 308–15.

Scholars@Duke

Shashi, V., W. L. Golden, C. Von Kap-Herr, and W. G. Wilson. “Constellation of congenital abnormalities in an infant: A new syndrome or tissue-specific mosaicism for trisomy 18?” American Journal of Medical Genetics 62, no. 1 (March 1, 1996): 38–41. https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1<38::AID-AJMG8>3.0.CO;2-S.

Full Text

Shashi, V., W. L. Golden, C. von Kap-Herr, and W. G. Wilson. “Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?” Am J Med Genet 62, no. 1 (March 1, 1996): 38–41. https://doi.org/10.1002/(SICI)1096-8628(19960301)62:1<38::AID-AJMG8>3.0.CO;2-S.

Full Text

Pages