MyFSHD

"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:

"Never go in against a Sicilian when death is on the line!" We have both survived so far and are back with part 2 of your Reddit questions on FSHD.

"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.

"Show me the money!" Brad our Angry Dad sits down with us and asks the questions on his mind about the Fulcrum results and others going forward.

"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.

"There's a time for daring and there's a time for caution, and a wise man understands which is called for." Brad our Angry Dad is back with some questions for us on the Avidity FORTITUDE AOC 1020 phase 1/2 trial interim data report and some muscle building. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Whatchyou talkin' 'bout Willis?" In a field where every press release is met with unsubstantiated hoopla and proclamations of BREAKTHROUGH! to fire you up to shake you down, we finally have some real news. We provide our evaluation of Avidity's public interim report on their FORTITUDE AOC-1020 phase 1/2 trial. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"You're messing with the wrong guy!!!!" We expand a bit more on the utility of the FSHD-like pig model and then discuss the science behind and implications of p38 inhibition for FSHD. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"We don't get a lot of things to really care about." So, you think you are interested in science, eh? Well, let's see how the sausage is made. Today we share our experience generating the FSHD-like minipig models, which will be key tools for testing and advancing better FSHD therapeutics and developing methods for building back your muscles. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Come out to the coast, we'll get together, have a few laughs..." The holiday season we discuss the recent FDA approved CRISPR therapy for sickle cell disease and some dynamics of methylation. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"As I leave my competition respirator style, climb the ladder to success escalator style." Today we have the Jaegercast, but first we continue our discussion about apabetalone, a new candidate drug for FSHD. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"I don't know how I'm going to live with myself if I don't stay true to what I believe." We evaluate the recent published work describing apabetalone, a small molecule drug from Resverlogix Corp that has been around for awhile and in clinic for other indications and is now being assessed more seriously as a potential therapeutic for FSHD. Overall, while lacking in some areas, this initial study is generally positive and supports that it is a new candidate worthy of further evaluation. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"I am sick and tired of the entire western world knowing how my kidneys are functioning!" We discuss current and upcoming FSHD clinical trials and touch a little bit on funding. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Farmer Hoggett knew that little ideas that tickled, and nagged, and refused to go away should never be ignored, for in them lie the seeds of destiny." We are in Australia promoting FSHD awareness with Parliament and to gather government support for FSHD diagnostics and clinical trial infrastructure, as well as catching up with many of our Australian friends. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Life has meaning only in the struggle. Triumph or defeat is in the hands of God. So let us celebrate the struggle!" With the FDA approval of the first gene therapy for DMD and clinical trials for FSHD in all stages of planning and performance, we take a moment to discuss the history of the DMD gene therapy path to approval as it relates to FSHD and address the important, yet oft ignored, concept of Therapeutic Misconception. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"It's human nature to lie. Most of the time we can't even be honest with ourselves." At MyFSHD is is always FSHD Day. We continue the conversation around therapeutic modalities and clinical trials, hopefully providing additional context for clarification, or just digging a deeper hole. You tell us. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Apes don't read philosophy." "Yes they do, Otto, they just don't understand it!" We're here to answer your questions and help you understand all things (FSHD) on your mind. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"We can rebuild him. We have the technology. We can make him better than he was. Better, stronger, faster." Today we are at the Biologic Scaffolds for Regenerative Medicine Symposium to discuss novel ways to potentially help FSHDers maintain strength and slow down pathology. Additional technology being presented by be applicable to help regain muscle mass after therapy. Joining us is one of the best FSHD advocates around, Emma Weatherley from FSHD Global Research Foundation in Australia. And we drop the newest track from Jaeger the Kid! --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"We Are Unique, Gentlemen, In That We Create Ourselves Through Long Years Of Rigorous Training, Sacrifice, Denial, Pain." Today we focus on our worldwide efforts to help FSHDers everywhere. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

Roy: "This is everything, ain't it? This is the choice it comes down to - this is our immortality." Romeo: "You don't need to be thinking immortality - you need to be thinking hit the 7 iron!" Dr Charis Himeda joins us to discuss recent news on stem cells, losmapimod, gene therapy, and antisense for FSHD. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"You just put your pickle on everybody's plate, college boy, and leave the hard stuff to me." We talk a little more about funding, hopefully providing some clarity, then bring on our Angry Dad for some questions, and then bring it home with another new track from Jaeger. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Sorry, Vern. I guess a more experienced shopper could have gotten more for your seven cents." Rare disease day is the last day of February, which got us thinking about what really needs to be done to get over the line. We also answer listener questions about animal models and the Avidity, myostatin inhibition, and cell therapy trials. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Come on in, grab a beer. Don't cost nothing." We have been podcasting about all things FSHD and realize that we have a lot of new listeners over the past year so we want to take this opportunity to catch everyone up on what the MyFSHD podcast is all about. You may have noticed that we are a bit different. We are not asking for money and we are not selling you anything, just real talk from experts in all things FSHD to help you understand and navigate the space with knowledge. On the science side, we discuss a little more Avidity and Vita cell therapy. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Why, sometimes I've believed as many as six impossible things before breakfast." Experimental therapies designed specifically for FSHD are finally arriving for trial in the clinic (i.e., in people). Today we discuss the upcoming Phase 1/2 clinical trial from Avidity using their antibody oligo conjugated siRNA designed specifically to knockdown the DUX4 mRNA in FSHD. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Do you ever have déjà vu, Mrs. Lancaster?" "I don't think so, but I could check with the kitchen" We will discuss some cool new pig data and how we are going about making sure our FSHD-like minipig models will be made right and properly characterized to be useful for testing FSHD therapeutics and muscle building strategies. As you know, the devil is always in the details and so far pigs are looking pretty darn good! --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"I've been going to this high school for 7-1/2 years. I'm no dummy." As 2023 gets underway, let's check in and see where the field stands - in our opinion, of course. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Life isn't like in the movies. Life..... is much harder." Whatever you end up doing, love it. And we love working every day on the problem of FSHD, educating others about the science, helping people learn about themselves, and informing the community of advancements. We're back and going strong, starting Season 2 with a discussion on the future of clinical trials and therapies, as requested by you. --- Send in a voice message: https://podcasters.spotify.com/pod/show/peter-l-jones/message

"Remember no man is a failure who has friends." We catch up with a few friends in this holiday season as FSHD research plows ahead. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"I want four fried chickens and a Coke". Dr. Charis Himeda joins us as we discuss some encouraging recent data from Sarepta for one of their DMD gene therapy trials and from Avidity for their myotonic dystrophy phase I/II trial and how it all potentially impacts FSHD. In addition, we revisit the potential (or lack there of) for placental or umbilical cord derived stem cell therapy for FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Never mind manoeuvres, always go at them". Dr. Bob Bloch from the University of Maryland School of Medicine joins us to discuss his development of the human FSHD muscle xenograft mouse model that is a key tool in the pre-clinical testing pipeline for FSHD therapeutics and biomarker discovery. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"You're messing with the wrong guy!" Happy Thanksgiving to our friends in the US, and for everyone else, it is always a good time to remember and give thanks for those you care about and who care about you. For us, that is the worldwide FSHD community. Today we have Brad, our angry dad, and discuss accessibility issues for safety and dealing with roadblocks in research. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

“The most terrifying day of your life is the day the first one is born. Your life as you know it is gone … But they learn how to walk, and they learn how to talk, and you want to be with them. And they turn out to be the most delightful people you will ever meet in your life.” We understand many of you participate in our FSHD research testing to learn more about yourselves and especially at risk family members. Here we discuss more about the procedure and results and interpretations. In addition, some more on CRISPR approaches to FSHD and a short FSHD minipig update. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Seek not to know the answers, but to understand the questions." Get to know Maryam Farooqi of the Jones Lab for FSHD. She is the first half of the team that performs all the FSHD research testing and is key for a number of other FSHD projects (i.e. FSHD-like mice and minipig projects). --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Advertising has us chasing cars and clothes, working jobs we hate so we can buy s--- we don't need." We discuss the publicly available data for the Fulcrum Open Label Extension of the ReDUX4 trial and the recent CRISPR-activation "N-of-one" trial in DMD and what that means for FSHD gene therapy. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"I would like, if I may, to take you on a strange journey." Ally Roets and Kristin Zwickau from the Early Onset FSHD Parent Group join us today to discuss what we need to do to get trial ready for those under 18 years old. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Roads? Where we're going, we don't need roads." We address listener questions on the cost of research and bringing new therapeutics to market and the debate over testing kids for FSHD when they are in an FSHD family but don't show any overt symptoms. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Was it over when the Germans bombed Pearl Harbor? Hell no!" We're just getting started at tearing this disease down, with more money being invested and more companies getting into the space seemingly every week. Jaeger drops another new track as we're trying to keep you up to speed with developments with Fulcrum, Solve FSHD, Vita Therapeutics, and more. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Just how bad is it?" "It's a fire. All fires are bad." We sit down with our FSHD Mom and fire inspector Dad and talk FSHD clinical trials. Also, it's fire prevention month, check your smoke and carbon monoxide detectors, make a plan in case of fire, know your two exits, have a place to meet, and make sure to discuss your plan with your family and/or roommates. Let's make sure we all make it to see this thing through to a cure. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Oh, you should never, never, doubt what nobody is sure about." Fulcrum has the losmapimod phase III trial going and now both Roche and Avidity just announced their upcoming clinical trials for FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

“Well, I guess if a person never quit when the going got tough, they wouldn't have anything to regret for the rest of their life." No regrets here, no matter how tough, we'll never quit till the job is done. Today we finish up on the Chocolate Ball, talk more on Dyne's announcement, and go back over DNA methylation as a diagnostic and prognostic for FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"That's not a knife...... that's a knife!" Drs. Peter and Takako Jones attend the 11th Annual Sydney Chocolate Ball to raise funds for FSHD Global Research Foundation, but we still talk about FSHD news of the day, which is DNA methylation (no surprise) and a big disappointment from Dyne Therapeutics. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Faced with overwhelming odds I'm going to have to science the s*** out of this." We celebrate our 50th podcast in style with Maryam Farooqi taking over the hosting duties (and the kitchen) as we discuss all things FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"The secret's in the sauce." We discuss some recent news in the neuromuscular disease space and FSHD publications on cell therapy and biomarkers. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"Your scientists were so preoccupied with whether they could, they didn't stop to think if they should." Our CRISPR Goddess Charis talks with host Peter and answers your questions on CRISPR, eventually. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"She made me realize just how precious wild places are." Our visiting medical student from South Africa, and fellow FSHDer, Kari Cilliers, joins Dr. Jones to discuss her time in the US working on FSHD. --- Send in a voice message: https://anchor.fm/peter-l-jones/message

"If you have one bucket that contains 7 gallons and one bucket that contains 2 gallons, how many buckets do you have?" Our FSHD dad asks questions on research and funding priorities, biomarkers, MRI, and what we are doing as a field to make sure we know if a drug works or not in trial. Plus, the world premiere of a new track from Jaeger! --- Send in a voice message: https://anchor.fm/peter-l-jones/message