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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

Mikati, MA, Jiang, Y-H, Carboni, M, Shashi, V, Petrovski, S, Spillmann, R, Milligan, CJ, Li, M, Grefe, A, McConkie, A, Berkovic, S, Scheffer, I, Mullen, S, Bonner, M, Petrou, S, and Goldstein, D. "Quinidine in the treatment of KCNT1-positive epilepsies." Annals of Neurology 78, no. 6 (December 2015): 995-999.

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Brownstein, CA, Holm, IA, Ramoni, R, Goldstein, DB, and Members of the Undiagnosed Diseases Network, . "Data sharing in the undiagnosed diseases network." Human mutation 36, no. 10 (October 2015): 985-988.

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Petrovski, S, Shashi, V, Petrou, S, Schoch, K, McSweeney, KM, Dhindsa, RS, Krueger, B, Crimian, R, Case, LE, Khalid, R, El-Dairi, MA, Jiang, Y-H, Mikati, MA, and Goldstein, DB. "Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition." Cold Spring Harbor molecular case studies 1, no. 1 (October 2015): a000257-.

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Okashah, R, Schoch, K, Hooper, SR, Shashi, V, and Callanan, N. "Parental Communication and Experiences and Knowledge of Adolescent Siblings of Children with 22q11.2 Deletion Syndrome." Journal of Genetic Counseling 24, no. 5 (October 2015): 752-759.

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Shashi, V, Harrell, W, Eack, S, Sanders, C, McConkie-Rosell, A, Keshavan, MS, Bonner, MJ, Schoch, K, and Hooper, SR. "Social cognitive training in adolescents with chromosome 22q11.2 deletion syndrome: feasibility and preliminary effects of the intervention." Journal of Intellectual Disability Research : Jidr 59, no. 10 (October 2015): 902-913.

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Shashi, V, Petrovski, S, Schoch, K, Crimian, R, Case, LE, Khalid, R, El-Dairi, MA, Jiang, Y-H, Mikati, MA, and Goldstein, DB. "Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing." Cold Spring Harbor molecular case studies 1, no. 1 (October 2015): a000265-.

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Shashi, V, Xie, P, Schoch, K, Goldstein, DB, Howard, TD, Berry, MN, Schwartz, CE, Cronin, K, Sliwa, S, Allen, A, and Need, AC. "The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome." Clinical Genetics 88, no. 4 (October 2015): 386-390.

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Zhu, X, Petrovski, S, Xie, P, Ruzzo, EK, Lu, Y-F, McSweeney, KM, Ben-Zeev, B, Nissenkorn, A, Anikster, Y, Oz-Levi, D, Dhindsa, RS, Hitomi, Y, Schoch, K, Spillmann, RC, Heimer, G, Marek-Yagel, D, Tzadok, M, Han, Y, Worley, G, Goldstein, J, Jiang, Y-H, Lancet, D, Pras, E, Shashi, V, McHale, D, Need, AC, and Goldstein, DB. "Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios." Genetics in Medicine : Official Journal of the American College of Medical Genetics 17, no. 10 (October 2015): 774-781.

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Goodwin, J, Schoch, K, Shashi, V, Hooper, SR, Morad, O, Zalevsky, M, Gothelf, D, and Campbell, LE. "A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders." Journal of intellectual disability research : JIDR 59, no. 5 (May 2015): 474-486.

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Vorstman, JAS, Breetvelt, EJ, Duijff, SN, Eliez, S, Schneider, M, Jalbrzikowski, M, Armando, M, Vicari, S, Shashi, V, Hooper, SR, Chow, EWC, Fung, WLA, Butcher, NJ, Young, DA, McDonald-McGinn, DM, Vogels, A, van Amelsvoort, T, Gothelf, D, Weinberger, R, Weizman, A, Klaassen, PWJ, Koops, S, Kates, WR, Antshel, KM, Simon, TJ, Ousley, OY, Swillen, A, Gur, RE, Bearden, CE, Kahn, RS, Bassett, AS, and International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, . "Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome." Jama Psychiatry 72, no. 4 (April 2015): 377-385.

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