Speaker Profile
MBBS, M.D., Professor of Pediatrics, Division of Medical Genetics, Duke University School of Medicine
Biography
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.
Talk
Remaining Undiagnosed after Exome Sequencing: What Next?
Exome sequencing yields diagnosis in 25-40% of previously intractable phenotypes. Utilizing a systematic
approach which includes further phenotyping, reanalysis of the exome FASTQ data, targeted molecular
testing, whole genome sequencing and clinical diagnostic considerations we have been able to resolve
>40% of exome negative cases. Our approach provides an effective algorithm to these cases.
