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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

Shashi, V, Schoch, K, Spillmann, R, Cope, H, Tan, QK-G, Walley, N, Pena, L, McConkie-Rosell, A, Jiang, Y-H, Stong, N, Need, AC, Goldstein, DB, and Undiagnosed Diseases Network, . "A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 1 (January 2019): 161-172.

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Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, Y-H, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, MT, McLaughlin, H, Rosello Piera, M, Orellana, C, Martínez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasselt, PM, Hofstede, FC, van Gassen, KLI, Brooks, AS, van Slegtenhorst, MA, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Undiagnosed Diseases Network, , and Campeau, PM. "Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay." American Journal of Human Genetics 104, no. 1 (January 2019): 164-178.

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Deisseroth, CA, Birgmeier, J, Bodle, EE, Kohler, JN, Matalon, DR, Nazarenko, Y, Genetti, CA, Brownstein, CA, Schmitz-Abe, K, Schoch, K, Cope, H, Signer, R, Undiagnosed Diseases Network, , Martinez-Agosto, JA, Shashi, V, Beggs, AH, Wheeler, MT, Bernstein, JA, and Bejerano, G. "ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis." Genetics in Medicine : Official Journal of the American College of Medical Genetics (December 5, 2018).

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Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schöneborn, S, Norman, A, Lopes Abath Neto, O, Dusl, M, Yuan, X, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzmán-Vega, FJ, Pena, LD, Smith, EC, Steinlin, M, Babiker, MO, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, P, Yang, Y, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Undiagnosed Diseases Network, , Schoser, B, Rösler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, E-J, Bönnemann, CG, Gleeson, JG, Martini, R, Janke, C, and Senderek, J. "Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration." The Embo Journal (November 12, 2018).

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Greene, C, Kealy, J, Humphries, MM, Gong, Y, Hou, J, Hudson, N, Cassidy, LM, Martiniano, R, Shashi, V, Hooper, SR, Grant, GA, Kenna, PF, Norris, K, Callaghan, CK, Islam, MD, O'Mara, SM, Najda, Z, Campbell, SG, Pachter, JS, Thomas, J, Williams, NM, Humphries, P, Murphy, KC, and Campbell, M. "Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia." Molecular Psychiatry 23, no. 11 (November 2018): 2156-2166.

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Splinter, K, Adams, DR, Bacino, CA, Bellen, HJ, Bernstein, JA, Cheatle-Jarvela, AM, Eng, CM, Esteves, C, Gahl, WA, Hamid, R, Jacob, HJ, Kikani, B, Koeller, DM, Kohane, IS, Lee, BH, Loscalzo, J, Luo, X, McCray, AT, Metz, TO, Mulvihill, JJ, Nelson, SF, Palmer, CGS, Phillips, JA, Pick, L, Postlethwait, JH, Reuter, C, Shashi, V, Sweetser, DA, Tifft, CJ, Walley, NM, Wangler, MF, Westerfield, M, Wheeler, MT, Wise, AL, Worthey, EA, Yamamoto, S, Ashley, EA, and Undiagnosed Diseases Network, . "Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease." The New England Journal of Medicine 379, no. 22 (November 2018): 2131-2139.

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Tan, QK-G, Cope, H, Spillmann, RC, Stong, N, Jiang, Y-H, McDonald, MT, Rothman, JA, Butler, MW, Frush, DP, Lachman, RS, Lee, B, Bacino, CA, Bonner, MJ, McCall, CM, Pendse, AA, Walley, N, Undiagnosed Diseases Network, , Shashi, V, and Pena, LDM. "Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features." Cold Spring Harbor Molecular Case Studies 4, no. 5 (October 2018).

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Marcogliese, PC, Shashi, V, Spillmann, RC, Stong, N, Rosenfeld, JA, Koenig, MK, Martínez-Agosto, JA, Herzog, M, Chen, AH, Dickson, PI, Lin, HJ, Vera, MU, Salamon, N, Graham, JM, Ortiz, D, Infante, E, Steyaert, W, Dermaut, B, Poppe, B, Chung, H-L, Zuo, Z, Lee, P-T, Kanca, O, Xia, F, Yang, Y, Smith, EC, Jasien, J, Kansagra, S, Spiridigliozzi, G, El-Dairi, M, Lark, R, Riley, K, Koeberl, DD, Golden-Grant, K, Program for Undiagnosed Diseases (UD-PrOZA), , Undiagnosed Diseases Network, , Yamamoto, S, Wangler, MF, Mirzaa, G, Hemelsoet, D, Lee, B, Nelson, SF, Goldstein, DB, Bellen, HJ, and Pena, LDM. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics 103, no. 3 (September 2018): 456-null.

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Demaerel, W, Hestand, MS, Vergaelen, E, Swillen, A, López-Sánchez, M, Pérez-Jurado, LA, McDonald-McGinn, DM, Zackai, E, Emanuel, BS, Morrow, BE, Breckpot, J, Devriendt, K, Vermeesch, JR, and International 22q11.2 Brain and Behavior Consortium, . "Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements." American Journal of Human Genetics 103, no. 3 (September 2018): 457-null.

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Walley, NM, Pena, LDM, Hooper, SR, Cope, H, Jiang, Y-H, McConkie-Rosell, A, Sanders, C, Schoch, K, Spillmann, RC, Strong, K, McCray, AT, Mazur, P, Esteves, C, LeBlanc, K, Undiagnosed Diseases Network, , Wise, AL, and Shashi, V. "Characteristics of undiagnosed diseases network applicants: implications for referring providers." Bmc Health Services Research 18, no. 1 (August 22, 2018): 652-null.

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