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Learn about TSC, its manifestations, genetics, and operating physiology
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Lessons and Objectives:
Introduction to TSC
- Describe what a rare disease is and explain why TSC is considered rare
- Differentiate between incidence and prevalence
- Summarize TSC's manifestations by organ system - students should be able to give a 15-30 second overview of the major disease symptoms
Genetics 101
- Explain the ways TSC manifests as a genetic disease - inheritence vs. spontaneous cases - understand the different types of genetic mutations that may cause TSC
mTOR 101
- Walk through a basic mTOR pathway diagram and explain why rapamycin is beneficial in TSC
- Explain how TSC research led to the breakthrough discovery of TSC's relationship to the mTOR pathway
How I Got Involved in TSC Research
Elizabeth "Lisa" Henske, MD
Before diving into the lessons within this course, watch clinician and researcher Lisa Henske, MD explain how she first got involved with TSC and how working with the TS Alliance and TSC community has shaped her research experience.
Click below to start the first lesson, Introduction to TSC.
