ncbi.nlm.nih.gov/pmc/articles/P… Excessive PMP22 disrupts the delicate balance of lipid-to-protein ratio required for proper myelin structure. This imbalance leads to the formation of disordered myelin-like assemblies, contributing to the defective myelin in CMT1A.

onlinelibrary.wiley.com/doi/abs/10.100… This paper shows that we can measure a 1.55x increase in PMP22 from CMT1A skin biopsies. This implies that skin biopsies can be used to accurately measure a (future) treatment's ability to downregulate the body's production of PMP22.

academic.oup.com/brain/article/… Boosting cGMP levels with sildenafil restores proteasome function, reduces proteotoxic stress, & improves myelination in a mouse model of CMT1B. This could also work for CMT1A.

Fascinating treatment for SMA 👇 EVRYSDI is a small molecule taken daily. It modifies SMN2 gene splicing by binding to SMN2 mRNA and results in increasing the production of the life-saving SMN protein. Wondering if it could be engineered to bind to PMP22 mRNA…

Interesting targeting approach: Antibody-targeted chromatin delivers CRISPR/Cas9 efficiently into cells. High precision, low toxicity, and no viral components. Could this be applicable to CMT1A? academic.oup.com/nar/article/47…

Grateful to Effie (Effie Parks) for this great episode about choosing friends as rare disease parents 👇 effieparks.com/podcast/episod… Highlights: - Find your people - Remember who you were before rare disease - Be intentional

This 2024 study reveals that boosting cGMP with drugs like tadalafil or CYR119 improves proteostasis, myelination, and nerve conduction in mouse models of #CMT1A & #CMT1B. Promising steps toward potential treatments! link.springer.com/article/10.100…

𝗜𝗻𝘁𝗿𝗼𝗱𝘂𝗰𝗶𝗻𝗴 Shark Tooth Biotech: 𝗔 𝗣𝗲𝗿𝘀𝗼𝗻𝗮𝗹 𝗠𝗶𝘀𝘀𝗶𝗼𝗻 𝘁𝗼 𝗖𝗼𝗺𝗯𝗮𝘁 𝗖𝗠𝗧𝟭𝗔 2 years ago, my world was flipped upside down. My 2-year-old son, Ari, was diagnosed with Charcot-Marie-Tooth Disease Type 1A (CMT1A). 🧵

Big thanks to Adam Fishman for inviting me to join him on the Startup Dad podcast. This conversation was deeply personal and a good forcing function to organize my thoughts on topics that are important to me. I hope you enjoy our conversation in which we covered: - The decision