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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

Delio, M, Guo, T, McDonald-McGinn, DM, Zackai, E, Herman, S, Kaminetzky, M, Higgins, AM, Coleman, K, Chow, C, Jalbrzikowski, M, Bearden, CE, Bailey, A, Vangkilde, A, Olsen, L, Olesen, C, Skovby, F, Werge, TM, Templin, L, Busa, T, Philip, N, Swillen, A, Vermeesch, JR, Devriendt, K, Schneider, M, Dahoun, S, Eliez, S, Schoch, K, Hooper, SR, Shashi, V, Samanich, J, Marion, R, van Amelsvoort, T, Boot, E, Klaassen, P, Duijff, SN, Vorstman, J, Yuen, T, Silversides, C, Chow, E, Bassett, A, Frisch, A, Weizman, A, Gothelf, D, Niarchou, M, van den Bree, M, Owen, MJ, Suñer, DH, Andreo, JR, Armando, M, Vicari, S, Digilio, MC, Auton, A, Kates, WR, Wang, T, Shprintzen, RJ, Emanuel, BS, and Morrow, BE. "Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes." American Journal of Human Genetics 92, no. 3 (March 2013): 439-447.

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Alders, M, Mendola, A, Adès, L, Al Gazali, L, Bellini, C, Dallapiccola, B, Edery, P, Frank, U, Hornshuh, F, Huisman, SA, Jagadeesh, S, Kayserili, H, Keng, WT, Lev, D, Prada, CE, Sampson, JR, Schmidtke, J, Shashi, V, van Bever, Y, Van der Aa, N, Verhagen, JM, Verheij, JB, Vikkula, M, and Hennekam, RC. "Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations." Mol Syndromol 4, no. 3 (March 2013): 107-113.

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Faux, D, Schoch, K, Eubanks, S, Hooper, SR, and Shashi, V. "Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians." J Genet Couns 21, no. 6 (December 2012): 835-844.

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Shashi, V, Veerapandiyan, A, Keshavan, MS, Zapadka, M, Schoch, K, Kwapil, TR, Hooper, SR, and Stanley, JA. "Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study." Biol Psychiatry 72, no. 8 (October 15, 2012): 684-691.

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Shashi, V, Francis, A, Hooper, SR, Kranz, PG, Zapadka, M, Schoch, K, Ip, E, Tandon, N, Howard, TD, and Keshavan, MS. "Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms." Eur J Hum Genet 20, no. 10 (October 2012): 1051-1057.

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Shashi, V, Veerapandiyan, A, Schoch, K, Kwapil, T, Keshavan, M, Ip, E, and Hooper, S. "Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions." J Intellect Disabil Res 56, no. 9 (September 2012): 865-878.

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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 (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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