View Only - Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network-Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network

Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network

Video Transcription

Video Summary

In this video, John Bergerstein and Matt Wheeler from Stanford University's Center for Undiagnosed Diseases present some of the work they have been doing as part of the clinical site for the NIH Undiagnosed Diseases Network. They discuss a series of cases that highlight different steps that can be helpful in uncovering diagnoses, including the use of non-diagnostic clinical exome sequencing, deep sequencing for mosaic conditions, reanalysis of sequencing data, metabolomic profiling, and functional studies using model organisms. They also mention the goals of the Undiagnosed Diseases Network, which include improving the level of care and frequency of obtaining a definitive diagnosis, facilitating advances in diagnostic science, and developing a model for collaboration in diagnosing and developing therapies for rare diseases. They emphasize the importance of case matching, the challenges in identifying certain types of genetic variants, and the need for collaboration and data sharing in the field of rare diseases. The video provides valuable insights into the diagnostic process and the ongoing efforts to improve the diagnosis of rare and undiagnosed conditions. (200 words)

Asset Subtitle

Hosted by Stanford University School of Medicine

Meta Tag

Case Conference 1

webinar 2

Keywords

Undiagnosed Diseases Network

clinical site

diagnostic science

rare diseases

collaboration

data sharing

genetic variants

diagnostic process

improving diagnosis