Deborah Robins

So much in variant, cell and lifestyle domains make us dissimilar and growing giant Umass/Chan list of genomic modulators crazy. We must address NH or controls (1 of several colonised convenient paradigms in DMD & not all RD ) to be our own control like the ultras or coi keeps it always winter.

Matching are group averages? Height difference maybe disadvantages controls. Matching of EC steroids impossible - in all respects (incl stability) - every time. You usually point out this age group don’t tend to decline much.

…and contributes to slower healing - unstable seal to scaffold tissue..

I mean one pass over one gene and the path of SoC is who you tend to remain despite wide heterogeneity of dystrophinopathy and well, life! Without family gut feeling advocacy I wonder how chn today survive RD? Clinical proactivity or reviews of marginal utility are to be lauded.

Sure, but today we do and low tech tests for concomitant disorders and illnesses often, but still there’s second odyssey to dx-despite more urgent or harmful than DMD symptoms -questions what have we learned about patient experience or at least elevated risks up/down stream?

Commendable person-centred care! We’ve seen a lack of curiosity even in the face of there being no record of the extreme illness and symptoms or experience anywhere, while the system clings to a single genetic dx as explanation or resigned fatalism and the patient deteriorates?

Our colonized disease model needs reform of all unfactored paradoxes in research so n=very few & self as control for measurable benefit of future patients - the true legacy for all our strivings. Publishing all individual data (now we have ai for speed only) is in the direction of transparency.

At least if he graffitied Donald Duck, it would mean more. He doesn’t even realize what a memorial is or that he’s not dead. Maybe he does and suddenly self-aware he’s getting zero memorials when he is?

CT’s must not only have patient involvement but ‘partnership’ to be co-designed by independent experts in condition paradoxes especially those with skin in the game.

As you described in your recent WDO industry paper, there is no stable dose of steroids - confounding every trial historically both rightly(for safety) and wrongly (good science). Likely high dose correlates to weight gain, certainly short term effects.

#WDAD 2025 7th Sept red balloon logo with interabled couple as family

On World Duchenne Awareness Day 2025, I ask researchers to stop pasting DMD prognosis with colonised fatalistic & outdated statistical
lifespans in publications. Update to modern biology and thus unpredictable prognoses! #DMD #WDAD2025 #Duchenne

The Australian Consumer Partnerships in Research Aug 12, 2025 finalists showcase-Register to tune in wherever you are in the medical world.
ccrew.accesscr.com.au/cpir-2025/li...

#CPIR2025Awards #patientengagement #patientpartners #consumerpartnership #clinicalresearch

I don’t believe so, I read in full. Not that a short form review can touch on all perspectives, I agree. Appreciate you, the most forthright and critical scientist we privileged to follow. ;-)

Allowing family members 24/7 in ICU wielding secretion clearance technologies aggressively is welcome, but given the effectiveness of low stress IPV augmenting MI/E it is a disappointing omission.

Check out our Australian Consumer Partnership in Research Awards showcase event in August 2025. Nominations are about to open but meanwhile we are looking for Judges and Sponsorship. Check out the event website for all the information. ccrew.accesscr.com.au/cpir-2025/

Biophysical characterization of the dystrophin C-terminal domain: Dystrophin interacts differentially with dystrobrevin isoforms Duchenne muscular dystrophy (DMD) gene encodes dystrophin, a large multidomain protein. Its nonfunctionality leads to dystrophinopathies like DMD and Becker muscular dystrophy, for which no cure is ye...

Do you take requests AAR? ...seems to be more molecular investigations to explain unknown phenotypical variation. Pls share your wisdom about these gene/GW linkages and their impact? www.jbc.org/article/S002...
doi.org/10.3389/fgen...

Cases make for thoughtfulness, i see attempting genuine efficacy in small pseudoexon pop as opposed ongoing barriers evident so far with each approved hotspot patch, seems to be advice of Matsuo in his history of exon skipping paper Feb 3. Can Sensei you review it ?

This disease has so many paradoxes on several levels, most ignored only independent expertise with skin in game co-designing for precision (and transparency of decisions however admirable, to discontinue)can change bad CT designs.

microsampling not invasive at all, way underused (am connected to norway led project to change in RD) unless volume for good assay exceeds collection?

try to figure that out before we go any further. And let’s be clear: there is precedence for *not* trying to exercise through illness: if someone had Duchenne’s muscular dystrophy and told you they couldn’t walk to the bathroom easily anymore, you wouldn’t ask them to do that 18/

Enjoying the celebration of 10-years of the John Walton Muscular Dystrophy Research Centre @newcastleuni.bsky.social Amazing to see how colleagues contributed to neuromuscular disease research, diagnostics, therapy and international networking!

My son has Duchenne. It resonated with me that his avatar first ran across country some distance every time he logged on.

YouTube video by seeso Somewhere Over the Rainbow - Ukulele Underground Tribute to Captain Google

It’s not unheard of to keep your diagnosis private in online communities. Vince (Captain Google)did it as member of the Ukulele Underground but not for so long. When he passed, it became known that he had Duchenne and the Underground produced this tribute. youtu.be/bZknGc7eDmI?...

Regenxbio says gene therapy strengthened boys with Duchenne muscular dystrophy Based on a small trial with positive muscle performance data, Regenxbio is expected to pursue approval of its gene therapy for Duchenne muscular dystrophy.

Regenxbio $RGNX says gene therapy strengthened boys with Duchenne muscular dystrophy

Pivotal study started, top-line data could come early 2026. FDA accelerated approval filing to follow.

www.statnews.com/2024/11/18/d... $SRPT

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis from Muscular Dystrophy. Graphical abstract created with BioRender

Differentiating Juvenile Dermatomyositis from Muscular Dystrophy

A diagnostic approach to sooner diagnosis in juvenile dermatomyositis

In Arthritis & Rheumatology
acrjournals.onlinelibrary.wiley.com/doi/abs/10.1...
#Medsky