An interactive website utilizing synthetic rare genetic disease scenarios to teach about the process of variant/gene prioritization in rare disease diagnosis.
- Description
- Live content
- On-demand content
These resources are created by Phillip Richmond (@Phillip-a-richmond), Alexandra Turvey (@AlexTurvey), Lauren Caswell (@laurencas), and Lauren Jones (@laurencwjones). Primary cases were published alongside the simulation framework in the paper:
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Using the simulator available here:
GeneBreaker
The content here is relevant to both live teaching format, and on-demand content. Details for each section are given below.
The format of the live course is as follows:
- 60 minutes - Lecture, description of activity.
- 60 minutes - Work through assigned case, create google slide presentation
- 60 minutes - Present cases in "clinical round table" format to peers.
Lecture is available for viewing online at: Link
Find your assigned case HTML below
- Case 1 - Case 1
- Case 2 - case2link{:target="_blank"}
- Case 3 - case3link{:target="_blank"}
- Case 4 - case4link{:target="_blank"}
- Case 5 - case5link{:target="_blank"}
- Case 6 - case6link{:target="_blank"}
- Case 7 - case7link{:target="_blank"}
- Case 8 - case8link{:target="_blank"}
- Case 9 - case9link{:target="_blank"}
- Case 10 - case10link{:target="_blank"}
You will copy this google slide deck template, and fill it out for your case.
Template -
Example slide deck - Link
To facilitate on-demand learning outside of live workshops, you can navigate multiple cases, identify the top 2 candidate genes, and fill-in the worksheet.