1. TSC2 By Samantha Lee

2. What is it?  Tuberin  TSC1/hamartin  Tumor suppressor (LOH)  41 small exons, 45 kb DNA  5.5 kb mRNA  196 kD

3. How does it work, downstream?

4. How does it work, upstream? Harvard School of Public Health

5. How was is discovered?  Positional cloning  1993  Key Nonsense Missense Frameshift Splice Site Hung et al. BMC Medical Genetics 2006

6. What goes wrong? Nature Publishing Group

7. What are the model organisms?  Drosophila  Eker Rats  Fission Yeast Rare Disease Clinical Research Network

8. What goes wrong in humans? Neurological Medicine Pocketbook

9. Is there treatment?