Vandana Shashi, MD, MB BS
Professor of Pediatrics
Department / Division:
/ Pediatrics-Medical Genetics
Durham, NC 27710
- MD, Pediatrics, Kasturba Medical College (India), 1986
- MB BS, Kasturba Medical College (India), 1982
- Pediatrics, Kasturba Medical College (India), 1983-1986
- Pediatrics, Royal Aberdeen Children's Hospital (Scotland), 1988-1989
- Pediatrics, Bowman Gray School of Medicine (North Carolina), 1991-1992
- Clinical Genetics, University of Virginia, 1992-1995
- Diploma in Child Health, Kasturba Medical College (India), 1985
Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome or velocardiofacial syndrome); evaluation and management of children with birth defects, mental retardation, developmental delays
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.
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.