dux. is far from the end. At Stanford iGEM, we are committed to delivering on our promise of hope to patients with FSHD of all ages, abilities, and backgrounds. We aim to achieve this goal through a series of initiatives:

(1) Maintain a robust research pipeline to refine a safe, effective, and intuitive therapy.

(2) Sustain partnership with FSHD patients and families to build a patient-centric process.

(3) Elevate community voices through advocacy initiatives.

When designing a translational medicine, our group must consider all facets of our therapy, from the cargo to its safety to its delivery. That’s why we’ve come up with a detailed set of next steps to assess the viability of our experimental drug:

(1) Package our complete cargo within an AAV capsid: Delivery via AAV offers numerous advantages. Notably, it powers long-term gene expression within skeletal muscle via a one-time dose, as well as next-generation targeting capabilities via engineering of our capsid. [1][2]

(2) Assess efficacy and safety of our DBD/AAV complex in vivo using FSHD patient-derived cell lines and FSHD-specific animal models: Perform functional assays to assess efficacy of our treatment. Perform molecular assays and gene expression analysis to monitor potential safety concerns, including off-target DNA binding and changes in transcriptome.

We expect that these efforts would position our therapy as a candidate for upcoming clinical trials, bringing another beam of hope to the FSHD community!

References.

[1] Wang, D., Zhong, L., Nahid, M. A., & Gao, G. (2014). The potential of adeno-associated viral vectors for gene delivery to muscle tissue. Expert opinion on drug delivery, 11(3), 345–364. https://doi.org/10.1517/17425247.2014.871258
[2]Tabebordbar, M., Lagerborg, K. A., Stanton, A., King, E. M., Ye, S., Tellez, L., ... & Sabeti, P. C. (2021). Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species. Cell, 184(19), 4919-4938.