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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

Chakraborty, D, Bernal, AJ, Schoch, K, Howard, TD, Ip, EH, Hooper, SR, Keshavan, MS, Jirtle, RL, and Shashi, V. "Erratum: Dysregulation of DGCR6 and DGCR6 L: Psychopathological outcomes in chromosome 22q11.2 deletion syndrome (Translational Psychiatry (2012) 2 (e105) DOI:10.1038/tp.2012.31)." Translational Psychiatry 2 (June 5, 2012).

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Need, AC, Shashi, V, Hitomi, Y, Schoch, K, Shianna, KV, McDonald, MT, Meisler, MH, and Goldstein, DB. "Clinical application of exome sequencing in undiagnosed genetic conditions." J Med Genet 49, no. 6 (June 2012): 353-361.

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Hagan, JB, Wasserman, RL, Baggish, JS, Spycher, MO, Berger, M, Shashi, V, Lohrmann, E, and Sullivan, KE. "Safety of L-proline as a stabilizer for immunoglobulin products (vol 8, pg 169, 2012)." EXPERT REVIEW OF CLINICAL IMMUNOLOGY 8, no. 4 (May 2012): 396-396.

Scholars@Duke

Das Chakraborty, R, Bernal, AJ, Schoch, K, Howard, TD, Ip, EH, Hooper, SR, Keshavan, MS, Jirtle, RL, and Shashi, V. "Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. (Published online)" Transl Psychiatry 2 (April 24, 2012): e105-.

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Hagan, JB, Wasserman, RL, Baggish, JS, Spycher, MO, Berger, M, Shashi, V, Lohrmann, E, and Sullivan, KE. "Safety of L-proline as a stabilizer for immunoglobulin products." Expert Review of Clinical Immunology 8, no. 2 (February 2012): 169-178. (Review)

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Chakraborty, D, Bernal, AJ, Schoch, K, Howard, TD, Ip, EH, Hooper, SR, Keshavan, MS, Jirtle, RL, and Shashi, V. "Erratum: Dysregulation of DGCR6 and DGCR6 L: Psychopathological outcomes in chromosome 22q11.2 deletion syndrome (Translational Psychiatry (2012) 2 (e105) DOI:10.1038/tp.2012.31)." Translational Psychiatry 2 (2012).

Full Text

Hagan, JB, Wasserman, RL, Baggish, JS, Spycher, MO, Berger, M, Shashi, V, Lohrmann, E, and Sullivan, KE. "Erratum: Safety of l-proline as a stabilizer for immunoglobulin products (Expert Review of Clinical Immunology (2012) 8,2 (169-178))." Expert Review of Clinical Immunology 8, no. 4 (2012): 396--.

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Veerapandiyan, A, Abdul-Rahman, OA, Adam, MP, Lyons, MJ, Manning, M, Coleman, K, Kobrynski, L, Taneja, D, Schoch, K, Zimmerman, HH, and Shashi, V. "Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge." Am J Med Genet A 155A, no. 9 (September 2011): 2186-2195.

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Cooper, GM, Coe, BP, Girirajan, S, Rosenfeld, JA, Vu, TH, Baker, C, Williams, C, Stalker, H, Hamid, R, Hannig, V, Abdel-Hamid, H, Bader, P, McCracken, E, Niyazov, D, Leppig, K, Thiese, H, Hummel, M, Alexander, N, Gorski, J, Kussmann, J, Shashi, V, Johnson, K, Rehder, C, Ballif, BC, Shaffer, LG, and Eichler, EE. "A copy number variation morbidity map of developmental delay." Nature Genetics 43, no. 9 (August 14, 2011): 838-846.

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Young, AS, Shashi, V, Schoch, K, Kwapil, T, and Hooper, SR. "Discordance in Diagnoses and Treatment of Psychiatric Disorders in Children and Adolescents with 22q11.2 Deletion Syndrome." Asian J Psychiatr 4, no. 2 (June 1, 2011): 119-124.

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