Vandana Shashi

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.