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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

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, June 8, 2019. https://doi.org/10.1002/ana.25522.

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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, T. A., L. Duncan, L. C. Rives, J. H. Newman, J. A. Phillips, M. E. Koziura, J. Brault, et al. “Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.” Molecular Genetics and Genomic Medicine 7, no. 6 (June 1, 2019). https://doi.org/10.1002/mgg3.676.

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Macnamara, Ellen F., Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vezina, Gilbert Undiagnosed Diseases Network, et al. “Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2..” Hum Mutat 40, no. 5 (May 2019): 532–38. https://doi.org/10.1002/humu.23722.

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Zastrow, Diane B., Jennefer N. Kohler, Devon Bonner, Chloe M. Reuter, Liliana Fernandez, Megan E. Grove, Dianna G. Fisk, et al. “A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing..” J Genet Couns 28, no. 2 (April 2019): 213–28. https://doi.org/10.1002/jgc4.1119.

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Lutz, Olivia, Paulo Lizano, Suraj Sarvode Mothi, Adam Joseph, Neeraj Tandon, Leighanne Ormston, Stephen Hooper, Matcheri Keshavan, and Vandana Shashi. “Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report..” Psychiatry Res Neuroimaging 285 (March 30, 2019): 47–50. https://doi.org/10.1016/j.pscychresns.2019.01.007.

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Burrage, Lindsay C., John J. Reynolds, Nissan Vida Baratang, Jennifer B. Phillips, Jeremy Wegner, Ashley McFarquhar, Martin R. Higgs, et al. “Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes..” Am J Hum Genet 104, no. 3 (March 7, 2019): 422–38. https://doi.org/10.1016/j.ajhg.2019.01.007.

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Cogné, Benjamin, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, et al. “Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability..” Am J Hum Genet 104, no. 3 (March 7, 2019): 530–41. https://doi.org/10.1016/j.ajhg.2019.01.010.

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Kelly, McKenna, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez-Palma, Erika Takle Axeen, et al. “Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region..” Epilepsia 60, no. 3 (March 2019): 406–18. https://doi.org/10.1111/epi.14653.

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Niarchou, Maria, Samuel J. R. A. Chawner, Ania Fiksinski, Jacob A. S. Vorstman, Johanna Maeder, Maude Schneider, Stephan Eliez, et al. “Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome..” Schizophr Res 204 (February 2019): 320–25. https://doi.org/10.1016/j.schres.2018.07.044.

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