Episodes
112
Latest episode
May 2026
Language
EN
MyFSHD is about education and personal empowerment for the worldwide facioscapulohumeral muscular dystrophy (FSHD) community. Here we have discussions and commentary hosted by FSHD researcher Peter Jones, PhD, on many things of interest to the FSHD community. Learn about the science behind the different FSHD therapeutic approaches, FSHD pathology, family genetics and FSHD diagnostics. We will discuss upcoming clinical trials and what to look forward to. You will get to understand how you can be better prepared, become involved, and help contribute to defeating FSHD once and for all.
"I think the question we should be asking is, do you believe in this thing or not?" We discuss the value of MRI-informed muscle biopsies compared with uninformed biopsies, how we go about interpreting FSHD clinical trial gene expression data, and after the song, we show the Jones Lab CRISPRi presentation from the ASGCT annual meeting in Boston.
"I'm not bad. I'm just drawn that way." Today we finish up some questions on clinical trials, therapeutics, what may be in the future, and other random FSHD topics. Good times :)
"Blue Horseshoe loves Anacott Steel." Today we cover recent clinical trial news in the FSHD space and delve a bit deeper into some topics from part 1 of our Reddit Q&A. **Updated version**The lowlight was Roche canceling their trial. The highlight was Sarepta's announcement of preliminary clinical data. Getting siRNAs, ASOs, and viruses into liver is easy because liver is filled with leaky capillaries, however, muscle is poorly vascularized and blood vessels have tight junctions so targeting cell receptors for enhanced transcytosis greatly enhances skeletal muscle delivery. Sarepta's targeting of the alpha v beta 6 integrin is a great advance in delivery of siRNA against DUX4 and, as predicted, shows the best DUX4 knockdown we have seen so far.
"I am the eyes and ears of this institution, my friends." You asked, we (try to) answer your questions. Part 1 of 2. There is no song in this version due to copyright issues causing it to be removed for some of our international listeners, otherwise, same as the original version.
"So, Mr Tipton, how could it take you five minutes to cook your grits when it takes the entire grit-eating world twenty minutes?" We discuss the initial Epicrispr Biotech press release pertaining to their EPI-321 phase 1/2 clinical trial and the big picture science behind the RESTEM phase 1/2 clinical trial in progress and the Scholar Rock upcoming phase 2 clinical trial.
"That's super frustrating. It just makes me wanna pick up whoever is standing closest to me and throw them through this window and out into the infinite abyss of nothingness!" Brad, our angry Dad, is back with some questions about clinical trials and muscle building.
"There's another old saying, Senator: Don't piss down my back and tell me it's raining." We know a lot of you don't have the time or interest in all the details so we packaged up the highlights of the gene therapy series, with some new information and evaluation, too, into one shorter (but not short enough, we know) episode.
"But did you bleed him? - Aesculapius says that bleeding is not a cure. It is only a way of proving that you are a physician at the expense of your patient." Finally, we discuss the EPI-321 epigenetic editing phase I/II clinical trial design and its potential for answering key questions necessary for going to phase III and for providing benefit to participants and patients.
"Good morning, and in case I don't see ya, good afternoon, good evening, and good night!" We take our time to evaluate publicly available preclinical data for EPI-321 used to support the Epicrispr Biotechnology first-in-human gene therapy clinical trial for FSHD. We discuss the data in the context of what is known from other neuromuscular disease gene therapy trials and integrate their own data in respect to what metrics are likely needed to be met for have any chance at providing benefit to patients.
"In the history of science, innovative concepts occasionally arise from sudden left-field inspiration." Here we make sure everyone is up to speed on the types of CRISPR inhibition for FSHD and FSHD epigenetics s that we are all ready to evaluate the preclinical data supporting the Epicrispr Biotechnology EPI321 clinical trial.
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