Rare Disease Research with Big Impact: What is Rett Syndrome?

While few have heard of this rare disease, the research behind Rett Syndrome is pushing the boundaries of gene therapy.

References:

1. https://www.rarediseasesinternational.org/living-with-a-rare-disease/
2. https://www.orpha.net/en/disease/detail/778#:~:text=The%20disorder%20affects%20approximately%201,birth%20or%20in%20early%20infancy.
3. https://www.rettsyndrome.org/about-rett-syndrome/
4. https://rettsyndromenews.com/rett-syndrome-aids-adaptations/
5. https://www.rettsyndrome.org/for-families/living-with-rett/communication/
6. https://www.sciencedirect.com/science/article/pii/S0031395516410989
7. https://www.nature.com/articles/ng1099_185
8. https://medlineplus.gov/genetics/gene/mecp2/#:~:text=The%20MeCP2%20protein%20is%20present,including%20nerve%20cells%20(neurons).
9. https://www.ajmc.com/view/treatment-and-symptom-management-for-rett-syndrome
10. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-rett-syndrome
11. https://pmc.ncbi.nlm.nih.gov/articles/PMC10680160/#:~:text=Trofinetide%2C%20a%20synthetic%20peptide%20being,vital%20for%20proper%20neuronal%20function.
12. https://www.neurology.org/doi/10.1212/WNL.0000000000205214
13. https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-20384619
14. https://reverserett.org/news/articles/a-concise-summary-of-gene-therapy-clinical-trials-for-rett-syndrome/
15. https://reverserett.org/cures/mecp2-reactivation/
16. https://rnajournal.cshlp.org/content/30/12/1554.long