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1
Intro
2
The First Moment of Undiagnosed
3
Patient Story 1
4
Undiagnosed Diseases Network
5
New England Journal of Medicine
6
First 20 months
7
Types of omics
8
Genetic variation and phenotype
9
Rare diseases
10
Genetic testing
11
The nucleus of a cell
12
DNA DNA microarray
13
Whole genome sequencing
14
Previous genetic testing
15
Similarities
16
Veins
17
Vascular Longing
18
Looking Again
19
Metabolomics
20
Fly example
21
Data sharing networks
22
Genomics
23
Amelie
24
Clint
25
Diagnosis
26
Why
27
cytokine profiling
28
therapeutic approach
29
funders
30
Insurance Coverage
31
Diagnosis and Therapy
32
Genetics and Family
33
Genetics
34
Research
35
Evidence
Description:
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.

Solving Medical Mysteries at the Stanford Center for Undiagnosed Diseases

Stanford University
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