MyFSHD

“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.

"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).

"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.

"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.

"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.

"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.

"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.

"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.

“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.

"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.