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

Mastrangelo, M, Scheffer, IE, Bramswig, NC, Nair, LDV, Myers, CT, Dentici, ML, Korenke, GC, Schoch, K, Campeau, PM, White, SM, Shashi, V, Kansagra, S, Van Essen, AJ, and Leuzzi, V. "Epilepsy in KCNH1-related syndromes." Epileptic Disorders : International Epilepsy Journal With Videotape 18, no. 2 (June 2016): 123-136.

Full Text

Hart, SJ, Schoch, K, Shashi, V, and Callanan, N. "Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project." Journal of genetic counseling 25, no. 1 (February 2016): 6-17.

Full Text

Shashi, V, McConkie-Rosell, A, Schoch, K, Kasturi, V, Rehder, C, Jiang, YH, Goldstein, DB, and McDonald, MT. "Practical considerations in the clinical application of whole-exome sequencing." Clinical Genetics 89, no. 2 (February 2016): 173-181.

Full Text

Williams, C, Jiang, Y-H, Shashi, V, Crimian, R, Schoch, K, Harper, A, McHale, D, Goldstein, D, and Petrovski, S. "Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy." Clinical genetics 88, no. 6 (December 2015): 597-599. (Letter)

Full Text

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.

Full Text

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.

Full Text

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-.

Full Text

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.

Full Text

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.

Full Text

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-.

Full Text

Pages