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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

Tran, Linh, Jason Richards, Marie McDonald, Allyn McConkie-Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, and Mohamad A. Mikati. “Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.” Epileptic Disorders : International Epilepsy Journal With Videotape 22, no. 1 (February 2020): 103–9. https://doi.org/10.1684/epd.2020.1127.

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Johnson, Brett V., Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma Ivancevic, et al. “Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.” Biol Psychiatry 87, no. 2 (January 15, 2020): 100–112. https://doi.org/10.1016/j.biopsych.2019.05.028.

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Zhao, Yingjie, Alexander Diacou, H Richard Johnston, Fadi I. Musfee, Donna M. McDonald-McGinn, Daniel McGinn, T Blaine Crowley, et al. “Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.” Am J Hum Genet 106, no. 1 (January 2, 2020): 26–40. https://doi.org/10.1016/j.ajhg.2019.11.010.

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Del Dotto, Valentina, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gusic, Alessandra Maresca, Leonardo Caporali, et al. “SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.” J Clin Invest 130, no. 1 (January 2, 2020): 108–25. https://doi.org/10.1172/JCI128514.

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McConkie-Rosell, Allyn, Kelly Schoch, Jennifer Sullivan, Heidi Cope, Rebecca Spillmann, Christina G. S. Palmer, Loren Pena, et al. “The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.” Clin Genet 96, no. 6 (December 2019): 521–31. https://doi.org/10.1111/cge.13635.

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Reuter, Chloe M., Jennefer N. Kohler, Devon Bonner, Diane Zastrow, Liliana Fernandez, Annika Dries, Shruti Marwaha, et al. “Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.” J Genet Couns 28, no. 6 (December 2019): 1107–18. https://doi.org/10.1002/jgc4.1161.

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Vervoort, Lisanne, Wolfram Demaerel, Laura Y. Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S. Hestand, Jeroen Breckpot, et al. “Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.” Hum Mol Genet 28, no. 22 (November 15, 2019): 3724–33. https://doi.org/10.1093/hmg/ddz166.

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Holt, Richard J., Rodrigo M. Young, Berta Crespo, Fabiola Ceroni, Cynthia J. Curry, Emanuele Bellacchio, Dorine A. Bax, et al. “De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.” Am J Hum Genet 105, no. 3 (September 5, 2019): 640–57. https://doi.org/10.1016/j.ajhg.2019.07.005.

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Sands, Tristan T., Francesco Miceli, Gaetan Lesca, Anita E. Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf-Greulich, et al. “Autism and developmental disability caused by KCNQ3 gain-of-function variants.” Ann Neurol 86, no. 2 (August 2019): 181–92. https://doi.org/10.1002/ana.25522.

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Haijes, Hanneke A., Maria J. E. Koster, Holger Rehmann, Dong Li, Hakon Hakonarson, Gerarda Cappuccio, Miroslava Hancarova, et al. “De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.” Am J Hum Genet 105, no. 2 (August 1, 2019): 283–301. https://doi.org/10.1016/j.ajhg.2019.06.016.

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