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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

Demaerel, Wolfram, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, et al. “Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements..” American Journal of Human Genetics 101, no. 4 (October 2017): 616–22. https://doi.org/10.1016/j.ajhg.2017.09.002.

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Wangler, Michael F., Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, John Members of the Undiagnosed Diseases Network (UDN), et al. “Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research..” Genetics 207, no. 1 (September 2017): 9–27. https://doi.org/10.1534/genetics.117.203067.

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Weisman, Omri, Yael Guri, Raquel E. Gur, Donna M. McDonald-McGinn, Monica E. Calkins, Sunny X. Tang, Beverly Emanuel, et al. “Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study..” Schizophr Bull 43, no. 5 (September 1, 2017): 1079–89. https://doi.org/10.1093/schbul/sbx005.

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Wang, Julia, Rami Al-Ouran, Yanhui Hu, Seon-Young Kim, Ying-Wooi Wan, Michael F. Wangler, Shinya Yamamoto, et al. “MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome..” Am J Hum Genet 100, no. 6 (June 1, 2017): 843–53. https://doi.org/10.1016/j.ajhg.2017.04.010.

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Spillmann, Rebecca C., Allyn McConkie-Rosell, Loren Pena, Yong-Hui Jiang, Yong-Hui Undiagnosed Diseases Network, Kelly Schoch, Nicole Walley, et al. “A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network..” Orphanet J Rare Dis 12, no. 1 (April 17, 2017). https://doi.org/10.1186/s13023-017-0623-3.

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Need, Anna C., Vandana Shashi, Kelly Schoch, Slavé Petrovski, and David B. Goldstein. “The importance of dynamic re-analysis in diagnostic whole exome sequencing..” J Med Genet 54, no. 3 (March 2017): 155–56. https://doi.org/10.1136/jmedgenet-2016-104306.

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Guipponi, M., F. Santoni, M. Schneider, C. Gehrig, X. B. Bustillo, W. R. Kates, B. Morrow, et al. “No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients..” Transl Psychiatry 7, no. 2 (February 21, 2017). https://doi.org/10.1038/tp.2016.258.

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Schoch, Kelly, Linyan Meng, Szabolcs Szelinger, David R. Bearden, Asbjorg Stray-Pedersen, Oyvind L. Busk, Nicholas Stong, et al. “A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay..” Am J Hum Genet 100, no. 2 (February 2, 2017): 343–51. https://doi.org/10.1016/j.ajhg.2016.12.013.

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Ramoni, Rachel B., John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, et al. “The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease..” Am J Hum Genet 100, no. 2 (February 2, 2017): 185–92. https://doi.org/10.1016/j.ajhg.2017.01.006.

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Chao, Hsiao-Tuan, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, et al. “A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3..” Am J Hum Genet 100, no. 1 (January 5, 2017): 128–37. https://doi.org/10.1016/j.ajhg.2016.11.018.

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