Solving Medical Mysteries at the Stanford Center for Undiagnosed Diseases

Explore the groundbreaking work of the Stanford Center for Undiagnosed Diseases in this informative lecture. Delve into the challenges of diagnosing rare and complex medical conditions as Dr. Jon Bernstein and Dr. Matthew Wheeler share their expertise. Learn about cutting-edge diagnostic techniques, including genomics, metabolomics, and cytokine profiling. Discover how the center collaborates with the NIH Undiagnosed Diseases Network to provide patients access to advanced testing and expert clinicians. Gain insights into the process of solving medical mysteries, from initial patient encounters to the application of various "omics" technologies. Understand the importance of genetic variation, phenotype analysis, and data sharing networks in unraveling complex cases. Explore real patient stories, the impact of diagnosis on therapy, and the role of research in advancing the field. Examine the challenges of insurance coverage and the broader implications for genetics and family health.

Intro
The First Moment of Undiagnosed
Patient Story 1
Undiagnosed Diseases Network
New England Journal of Medicine
First 20 months
Types of omics
Genetic variation and phenotype
Rare diseases
Genetic testing
The nucleus of a cell
DNA DNA microarray
Whole genome sequencing
Previous genetic testing
Similarities
Veins
Vascular Longing
Looking Again
Metabolomics
Fly example
Data sharing networks
Genomics
Amelie
Clint
Diagnosis
Why
cytokine profiling
therapeutic approach
funders
Insurance Coverage
Diagnosis and Therapy
Genetics and Family
Genetics
Research
Evidence