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.

Session Chair Profile

Ph.D., Professor of Genetics at The University of North Carolina at Chapel Hill, and Co-Founder and Consultant for GeneCentric Diagnostics

Dr Perou’s research crosses the disciplines of genomics, cancer research, bioinformatics and clinical care. His major contribution to the field has been in the characterization of the diversity of tumors, beginning first in breast cancer and more recently extending to lung cancer. His current work is focused on bringing genomic assays into the everyday cancer clinic to make improvements in personalized patient care. He has authored more than 300 peer reviewed articles. He earned his BA in Biology from Bates College, his PhD in Cell Biology from the University of Utah, and performed his postdoctoral work in the laboratory of David Botstein (then at Stanford University). He has been a faculty member at UNC since 2000. Additionally, he was the recipient of the Jill Rose Award for Distinguished Biomedical Research from the Breast Cancer Research Foundation, and the Brinker Award for Scientific Distinction from the Susan G. Komen.


Sequencing Studies for Gene Expression Analysis
The value of sequencing for DNA variants is established, however, massively parallel sequencing also holds great promise for RNA-based expression discovery and clinical use. Multiple expression-based assays have shown clinical utility, and results will be presented showing the value of sequencing-based approaches in breast and lung cancers.

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.