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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, 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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Chong, JX, McMillin, MJ, Shively, KM, Beck, AE, Marvin, CT, Armenteros, JR, Buckingham, KJ, Nkinsi, NT, Boyle, EA, Berry, MN, Bocian, M, Foulds, N, Uzielli, MLG, Haldeman-Englert, C, Hennekam, RCM, Kaplan, P, Kline, AD, Mercer, CL, Nowaczyk, MJM, Klein Wassink-Ruiter, JS, McPherson, EW, Moreno, RA, Scheuerle, AE, Shashi, V, Stevens, CA, Carey, JC, Monteil, A, Lory, P, Tabor, HK, Smith, JD, Shendure, J, Nickerson, DA, and Bamshad, MJ. "De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay." American Journal of Human Genetics 96, no. 3 (March 5, 2015): 462-473.

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Chong, JX, McMillin, MJ, Shively, KM, Beck, AE, Marvin, CT, Armenteros, JR, Buckingham, KJ, Nkinsi, NT, Boyle, EA, Berry, MN, Bocian, M, Foulds, N, Uzielli, MLG, Haldeman-Englert, C, Hennekam, RCM, Kaplan, P, Kline, AD, Mercer, CL, Nowaczyk, MJM, Klein Wassink-Ruiter, JS, McPherson, EW, Moreno, RA, Scheuerle, AE, Shashi, V, Stevens, CA, Carey, JC, Monteil, A, Lory, P, Tabor, HK, Smith, JD, Shendure, J, Nickerson, DA, University of Washington Center for Mendelian Genomics, , and Bamshad, MJ. "De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay." American Journal of Human Genetics 96, no. 3 (March 2015): 462-473.

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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 59, no. 5 (January 1, 2015): 474-486.

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Enns, GM, Shashi, V, Bainbridge, M, Gambello, MJ, Zahir, FR, Bast, T, Crimian, R, Schoch, K, Platt, J, Cox, R, Bernstein, JA, Scavina, M, Walter, RS, Bibb, A, Jones, M, Hegde, M, Graham, BH, Need, AC, Oviedo, A, Schaaf, CP, Boyle, S, Butte, AJ, Chen, R, Clark, MJ, Haraksingh, R, Cowan, TM, He, P, Langlois, S, Zoghbi, HY, Snyder, M, Gibbs, RA, Freeze, HH, Goldstein, DB, and Consortium, FORGEC. "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway." GENETICS IN MEDICINE 16, no. 10 (October 2014): 751-758.

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Enns, GM, Shashi, V, Bainbridge, M, Gambello, MJ, Zahir, FR, Bast, T, Crimian, R, Schoch, K, Platt, J, Cox, R, Bernstein, JA, Scavina, M, Walter, RS, Bibb, A, Jones, M, Hegde, M, Graham, BH, Need, AC, Oviedo, A, Schaaf, CP, Boyle, S, Butte, AJ, Chen, R, Chen, R, Clark, MJ, Haraksingh, R, FORGE Canada Consortium, , Cowan, TM, He, P, Langlois, S, Zoghbi, HY, Snyder, M, Gibbs, RA, Freeze, HH, and Goldstein, DB. "Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway." Genetics in Medicine : Official Journal of the American College of Medical Genetics 16, no. 10 (October 2014): 751-758.

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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. "Corrigendum: A copy number variation morbidity map of developmental delay." Nature Genetics 46, no. 9 (August 2014): 1040-null.

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