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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

Mastrangelo, Mario, Ingrid E. Scheffer, Nuria C. Bramswig, Lal D. V. Nair, Candace T. Myers, Maria Lisa Dentici, Georg C. Korenke, et al. “Epilepsy in KCNH1-related syndromes..” Epileptic Disord 18, no. 2 (June 1, 2016): 123–36. https://doi.org/10.1684/epd.2016.0830.

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Hart, Sarah J., Kelly Schoch, Vandana Shashi, and Nancy Callanan. “Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project..” J Genet Couns 25, no. 1 (February 2016): 6–17. https://doi.org/10.1007/s10897-015-9910-0.

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Shashi, V., A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y. H. Jiang, D. B. Goldstein, and M. T. McDonald. “Practical considerations in the clinical application of whole-exome sequencing..” Clin Genet 89, no. 2 (February 2016): 173–81. https://doi.org/10.1111/cge.12569.

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Williams, C., Y. -. H. Jiang, V. Shashi, R. Crimian, K. Schoch, A. Harper, D. McHale, D. Goldstein, and S. Petrovski. “Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy..” Clin Genet 88, no. 6 (December 2015): 597–99. https://doi.org/10.1111/cge.12581.

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Mikati, Mohamad A., Yong-Hui Jiang, Michael Carboni, Vandana Shashi, Slave Petrovski, Rebecca Spillmann, Carol J. Milligan, et al. “Quinidine in the treatment of KCNT1-positive epilepsies..” Ann Neurol 78, no. 6 (December 2015): 995–99. https://doi.org/10.1002/ana.24520.

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Brownstein, Catherine A., Ingrid A. Holm, Rachel Ramoni, David B. Goldstein, and David B. Members of the Undiagnosed Diseases Network. “Data sharing in the undiagnosed diseases network..” Hum Mutat 36, no. 10 (October 2015): 985–88. https://doi.org/10.1002/humu.22840.

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Petrovski, Slavé, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S. Dhindsa, Brian Krueger, et al. “Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition..” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015). https://doi.org/10.1101/mcs.a000257.

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Okashah, Rebecca, Kelly Schoch, Stephen R. Hooper, Vandana Shashi, and Nancy Callanan. “Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome..” J Genet Couns 24, no. 5 (October 2015): 752–59. https://doi.org/10.1007/s10897-014-9806-4.

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Shashi, V., W. Harrell, S. Eack, C. Sanders, A. McConkie-Rosell, M. S. Keshavan, M. J. Bonner, K. Schoch, and S. R. Hooper. “Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention..” J Intellect Disabil Res 59, no. 10 (October 2015): 902–13. https://doi.org/10.1111/jir.12192.

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Shashi, Vandana, Slavé Petrovski, Kelly Schoch, Rebecca Crimian, Laura E. Case, Roha Khalid, Maysantoine A. El-Dairi, Yong-Hui Jiang, Mohamad A. Mikati, and David B. Goldstein. “Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing..” Cold Spring Harb Mol Case Stud 1, no. 1 (October 2015). https://doi.org/10.1101/mcs.a000265.

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