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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, Margaret N. Berry, and Wesley Covitz. “A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.” Am J Med Genet 108, no. 3 (March 15, 2002): 205–8. https://doi.org/10.1002/ajmg.10264.

Full Text

Berry, M. N., and V. Shashi. “Further characterization of odontotrichomelic syndrome.” In American Journal of Human Genetics, 69:286–286. UNIV CHICAGO PRESS, 2001.

Scholars@Duke

Evans, L. E., V. Shashi, A. R. Turner, R. Schwartz, and M. J. Pettenati. “Multiple copies of SHOX does not overcompensate for the loss of Yq in a male with short stature and iso Yp.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 316–316.

Scholars@Duke

Turner, A. R., D. Conrad, W. McGuirt, and V. Shashi. “Reynolds acrofacial dysostosis: Report of an additional family.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 292–292.

Scholars@Duke

Shashi, V., M. N. Berry, and M. H. Hines. “Vasomotor instability in chromosome 22q11 deletion.” American Journal of Human Genetics 69, no. 4 (October 1, 2001): 283–283.

Scholars@Duke

Pettenati, M. J., M. Berry, V. Shashi, J. Hartley Bowen, and M. Harper. “Prenatal diagnosis of complete sole trisomy 1q.” Prenat Diagn 21, no. 6 (June 2001): 435–40. https://doi.org/10.1002/pd.64.

Full Text

Shashi, V., A. Rickheim, and M. J. Pettenati. “Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.” Am J Med Genet 100, no. 1 (April 15, 2001): 25–29. https://doi.org/10.1002/ajmg.1186.

Full Text

Shashi, V., M. N. Berry, and W. Covitz. “Does every neonate with Down syndrome need an echocardiogram?” American Journal of Human Genetics 67, no. 4 (October 1, 2000): 115–115.

Scholars@Duke

Shashi, V., M. N. Berry, S. Shoaf, J. J. Sciote, D. Goldstein, and T. C. Hart. “A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.” Am J Hum Genet 66, no. 2 (February 2000): 469–79. https://doi.org/10.1086/302772.

Full Text

Shashi, V., M. J. Pettenati, C. von Kap-Herr, and D. W. Bowden. “Chromosome 7q22 is a likely site of a tumor suppressor gene in malignant myeloid diseases.” American Journal of Human Genetics 65, no. 4 (October 1, 1999): A322–A322.

Scholars@Duke

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