Vandana Shashi

Vandana Shashi is a Professor of Pediatrics at Duke University School of Medicine and Principal Investigator for the Duke Undiagnosed Diseases Network (UDN) site. She specializes in rare and undiagnosed diseases, particularly focusing on 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) and its neurodevelopmental implications. Her work integrates clinical evaluation with genome sequencing to diagnose rare conditions and understand their genetic basis.

• Duke University School of Medicine, Professor of Pediatrics
• Co-Chair, UDN Steering Committee
• Director, Duke 22q11.2 Deletion Syndrome Clinic
• Member, International Brain and Behavior Consortium for 22q11.2 Deletion Syndrome

Her research emphasizes genomic medicine, neurodevelopmental disorders, and the genetic underpinnings of schizophrenia in 22q11.2 deletion syndrome. She leads studies on learning disabilities and mental health risks in these patients.

Grants include funding from the Eunice Kennedy Shriver NICHD, NINDS, and NHGRI for projects in undiagnosed disease research, genomic programs, and neurodevelopmental studies. She also collaborates on telehealth effectiveness and equity in rare disease diagnosis.