Speaker Profile

MBBS, M.D., Professor of Pediatrics, Division of Medical Genetics, Duke University School of Medicine

Vandana Shashi is a Professor of Pediatrics within the Division of Medical Genetics. She has been involved in rare and undiagnosed diseases for many years, and has been an early utilizer of genomic sequencing for these disorders. She is currently the Principal Investigator for the Undiagnosed Diseases Network at Duke. She did her Medical training in India, a pediatric residency at the Bowman Gray School of Medicine and a fellowship in Clinical Genetics at the University of Virginia.


Undiagnosed Diseases: Resolving one Diagnosis at a Time
Rare and undiagnosed diseases, previously intractable, are now being resolved at high rates, with the application of whole exome and whole genome sequencing. This presentation will provide an overview of the successes of genome sequencing in the population, as well as outline challenges that have surfaced and discuss future directions.

Session Abstract

Session Synopsis: Genome sequencing has turned into a practical technology, leading to the rise of many new exciting applications emerging on a regular basis, particularly in cancer and rare disease diagnosis. This session will highlight some exciting new advancements with specific applications and how it is improving disease diagnostics, treatment, and even prevention.