Vandana Shashi, MBBS, MD
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
Selected Grants and Awards
- An integrated and diverse genomic medicine program for undiagnosed diseases
- 1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
- Development of a Novel Cognitive Remediation Program for 22q11 Deletion Syndrome
- Risk Factors for Psychosis in Chromosome 22q11 Deletion Syndrome
- Neural correlates of working memory in children with 22q11.2 deletion syndrome