Vandana Shashi
Professor of Pediatrics

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.

Current Research Interests

Undiagnosed and rare diseases are most often caused by changes in one or more genes. Individuals with these rare diseases spend months to years visiting many physicians and undergoing multiple tests, since these diseases are hard to diagnose. Genome sequencing offers the opportunity to provide accurate diagnoses for such patients. Through the Duke clinical site of the Undiagnosed Diseases Network and the Duke Genome Sequencing Clinic, I provide comprehensive diagnostic services for patients with undiagnosed and rare diseases. 

I also have an interest in determining the factors that predispose to mental illnesses in individuals with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome or valocardiofacial syndrome), including understanding the underlyiing changes in brain morphology, neuropsychology and genetic factors. 

Current Appointments & Affiliations

Contact Information

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