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 diffe
"Houston, we have a problem". While it is exciting for the FSHD community that clinical trials are here and more are coming soon, the system is not working for everyone. Our young and non-ambulatory FSHDers of all ages are currently being left behind. Today, Maggie and Kate from the Cure FSHD for All initiative ask for inclusion into clinical trials; it is good business, good science, and the right thing to do. And if that is not feasible, then please consider expanded access to experimental therapeutics for those most in need and with no other options.
"You're gonna need a bigger boat!" Today we discuss the third compound going to clinic emerging from Neil Camarta's "Shark Tank" meetings. This one from Satellos was designed to address the regeneration deficit in DMD caused by reduced asymmetric muscle stem cell division, and is now being repurposed for FSHD to potentially boost muscle regeneration regardless of DUX4 status.
"If you want something bad, you have to fight for it. Step up you game, Scott. Break out the L-word". Today we discuss a little more on the Epicrispr clinical trial and preview the upcoming Scholar Rock, Soufflé and Dyne phase I/II clinical trials. As you know, the Devil is in the details. We are tingling with anticipation for the upcoming clinical trial report from Epicrispr to be presented at the World Muscle Society first week of October (DNA methylation and DUX4 target gene expression data from biopsies, please). We are still very hopeful for the Avidity Phase 3 trial currently in 45…
"What is magic? Magic is deception, but deception designed to delight, to entertain, to inspire. It is about belief. Faith." Today we discuss the recent exciting data presented by Epicrispr and their EPI-321 gene therapy at the IRC , and more importantly, we discuss what they (shockingly) did not say, present, or disclose. Hmmmm..... While it is inconceivable (to us) that a company would not test if their specific treatment was actually working, it is equally unconscionable that a company (with the help of their foundation partners) would knowingly mislead the community, so we know that is…
"It's not who I am underneath, but what I do that defines me." We celebrate World FSHD Day with those that are making a difference in the world (and our fathers -- Happy Father's Day!) and then discuss what we would like to hear from the FSHD clinical trial companies at the upcoming FSHD International Research Congress.
"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…
"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.
"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.
"...and by the time they figure out what went wrong, we'll be sitting on a beach, earning twenty percent." This is part 2 of our podcast series covering the important factors in successful gene therapy and introduces the knowledge gained from other neuromuscular diseases and how it can be applied to positively impact gene therapy in FSHD. In part 2, we focus on viral dosing and how it affects therapeutic biodistribution and expression. In addition, we reveal what is known about variable durability of transgene expression and what to look for to predict a durable, or non-durable, therapeutic.…
"My friends are toys. I make them. It's a hobby. I'm a genetic designer." This is a two part podcast covering the important factors is successful gene therapy and introduces the knowledge gained from other neuromuscular diseases and how it can be used to positively impact gene therapy in FSHD. In part 1, we focus on AAV serotypes, transgene constructs, immune responses, and delivery. We look into DMD gene therapy and how that can impact the current FSHD gene therapy programs. Check us out on the MyFSHD Youtube channel as well.
"And that would tell you what is obvious right now? That avoiding apple skins and pizza has no effect on this brutal disease?" Today we discuss the Cure FSHD for All (go to: www.curefshdforall.com) initiative for inclusion of FSHDers under 18 and those with limited mobility into clinical trials and for access to developing therapies.
"You're gonna need a bigger boat." MyFSHD is our summer blockbuster passion project. We discuss how to get it done, whatever your "it" is, in the FSHD space, as well as our trip to Shanghai and Hanoi to continue our efforts to help FSHDers around the world.
"I'll have what she's having." We'll take you through and discuss the recent release of Avidity Biosciences topline results from the phase 1/2 FORTITUDE trial and the preliminary data from the biomarker cohort extension.
"I gotta know what a 5 dollar shake tastes like." We continue our conversation with Tamara Gottlieb, who shares her years of experience helping to keep her family above the FSHD curve and improve quality of life. It's a lot of work, but it can help. Part 2 of 2. Tamara is one of the leaders (along with Emily Ca and Wayne Nesbit) of the "FSHD - supplements, nutrition, and peer support" Facebook gropou, so check it out for more information.
"You are what you eat, and I'm freaking delicious!" Our guest today, Tamara Gottlieb, is the driving force for our First Family of FSHD Fitness, Nutrition, and Lifestyle, and she shares with us what she has learned over her years of experience helping keep her family above the FSHD curve and improve quality of life. It's a lot of work, but it can help. Part 1 of 2. Tamara (along with Emily Ca and Wayne Nesbit) is one of the leaders of the "FSHD - supplements, nutrition, and peer support" Facebook group, so check it out for more information.
"Come on. No, no, don't do that. Don't give me the pouty batface." We have video today (!) for our special guest Carme Farré, who founded FaceToned®, and she shares her experiences as part of an FSHD family and how her techniques for facial fitness can help the FSHD community. If interested, you can arrange a free consultation below: 🔗 https://calendly.com/carmefarre/15min?month=2025-04 and find more information: 🌐 www.facetoned.com 📚 courses.facetoned.com
"The battle of wits has begun. It ends when you decide and we both drink - and find out who is right, and who is dead." Today Brad, our angry dad, brings a list of your FSHD Reddit questions looking for answers.
"The most valuable commodity I know of is information." Today we discuss current clinical trials in FSHD and the foundational science behind the technology. While NIH has funded much of the foundational science that todays therapeutic approaches are built upon, it is the private individual and foundation support from those with vested interests in a rare disease that drive industry investment that gets the therapies over the line and into the clinic and ultimately to patients.
"Good heavens, are you still trying to win? You've got an over developed sense of vengeance. It's going to get you into trouble someday." We remember Jenny Hasenjaeger and discuss research funding so that we don't let anyone else down.
"You know the Greeks didn't write obituaries. They only asked one question after a man died: 'Did he have passion?'. " Today we are joined by our CRISPR Goddess to discuss her new FSHD optimized gene therapy cassette that is stronger, safer, more compact and all around better than anything out there for use in FSHD and neuromuscular gene therapy approaches.
"I always tell the truth, even when I lie." Today we are joined by our CRISPR Goddess and cover the Fulcrum Therapeutics REACH phase 3 clinical trial data release and discuss our journey with Fulcrum from the beginning. While very disappointing from several aspects, in the end a lot of benefit truly has been gained for the FSHD field and we are grateful for Fulcrum's contributions to help others going forward. And there are many others coming along, this is the beginning and not the end for FSHD therapeutics.
About MyFSHD
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 diffe
MyFSHD is a English business podcast from Peter L Jones, PhD. Melo plays each episode straight from the publisher's own feed — no ads added, no account needed — and remembers where you stopped, in this browser only.
The Melo app keeps playing with the screen off, works in the car and on your watch, wakes you to your station, and browses the whole catalogue offline. Free, no ads, no account.
