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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

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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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, September 3, 2019. https://doi.org/10.1002/jgc4.1161.

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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, August 25, 2019. https://doi.org/10.1111/cge.13635.

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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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Shashi, Vandana, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, et al. “Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis..” Hum Mutat 40, no. 8 (August 2019): 1115–26. https://doi.org/10.1002/humu.23760.

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Deisseroth, Cole A., Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, et al. “ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis..” Genet Med 21, no. 7 (July 2019): 1585–93. https://doi.org/10.1038/s41436-018-0381-1.

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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, June 29, 2019. https://doi.org/10.1016/j.biopsych.2019.05.028.

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Silverman, Edwin K., Patrick Allard, Joseph Loscalzo, John J. Mulvihill, Susan A. Korrick, and Susan A. Undiagnosed Diseases Network. “Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network..” Am J Med Genet A 179, no. 6 (June 2019): 958–65. https://doi.org/10.1002/ajmg.a.61132.

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Cassini, Thomas A., Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, and Joy Undiagnosed Diseases Network. “Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms..” Mol Genet Genomic Med 7, no. 6 (June 2019). https://doi.org/10.1002/mgg3.676.

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