#musculardystrophy

"We are...convinced that this has opened the door to the development of new therapeutic approaches for the treatment of Duchenne muscular dystrophy. In particular, this could be the case for patients with mutations that have so far been difficult to address," said Dr Didier Stainier, Director of the Max Planck Institute for Heart and Lung Research, among other appointments.

#MuscularDystrophy #DMD #health #medicine #genetics #research #science

https://www.labroots.com/trending/genetics-and-genomics/28555/insights-duchenne-muscular-dystrophy-reveal-therapeutic-options

Structure and assembly of the dystrophin glycoprotein complex | Nature

Bit of a beast. Used to work on the matriglycan modification of aDG, nice to see this out in the wild.

#CryoEM #Science #Research #MuscularDystrophy #StructuralBiology @strucbio

https://www.nature.com/articles/s41586-024-08310-2

thanks to @markmellors @a very generous contact of his I now have a fantastic powered wheelchair that will make getting out & about much easier. it may even cope with @drfootleg paddock #footfest2040 f the grass has been cut. (significant donation to made to #MuscularDystrophy as a thank-you)

#DUX4 modulates translational regulators to suppress protein synthesis while promoting expression of DUX4-induced genes, suggesting a role in cell state conversion during development (and pathological role in #cancer or #MuscularDystrophy) #PLOSBiology https://plos.io/48FLJAe

"It felt like the Hunger Games":

Between 6th birthdays that came too soon & insurance companies denying coverage, families scramble to get their 5 year-olds treated under Sarepta's narrow #FDA approval for #DMD

What a gut punch ending.

https://www.statnews.com/2023/08/16/duchenne-muscular-dystrophy-sarepta-elevidys-gene-therapy-eligible-boys/

#health #healthcare #biotech #genetherapy #insurance #duchenne #musculardystrophy #parenting #medicine

Man with muscle-wasting condition completes gruelling Ironman triathlon | indy100
https://www.indy100.com/news/man-with-muscle-wasting-condition-completes-gruelling-ironman-triathlon

#Ironman
#IronmanTriathlon
#FaciocapulohumeralMuscularDystrophy
#MuscularDystrophy
#MD
#IronManAustralia

Gene therapy with AAV vectored micro-dystrophin for Duchenne muscular dystrophy. My latest #ClinicalPipeline column for #NatureMedicine.

#drugdevelopment #SciComm #MuscularDystrophy #Pharma

https://www.nature.com/articles/d41591-023-00052-4

Referenced link: https://medicalxpress.com/news/2023-05-scarring-collagen-highway-stem-cells.html
Discuss on https://discu.eu/q/https://medicalxpress.com/news/2023-05-scarring-collagen-highway-stem-cells.html

Originally posted by Phys.org / @physorg_com: http://nitter.platypush.tech/medical_xpress/status/1656708765482205192#m

RT by @physorg_com: Study: Scarring of collagen 'highway' prevents #stemcells from healing damaged tissue in Duchenne #musculardystrophy https://www.nature.com/articles/s41536-023-00287-2 https://medicalxpress.com/news/2023-05-scarring-collagen-highway-stem-cells.html

Therapy to Reverse Muscle Dystrophies Shows Promise
https://www.medscape.com/viewarticle/991308?src=rss #MuscularDystrophy #therapy

Referenced link: https://medicalxpress.com/news/2023-04-bold-therapy-delivery-method-treatment.html
Discuss on https://discu.eu/q/https://medicalxpress.com/news/2023-04-bold-therapy-delivery-method-treatment.html

Originally posted by Phys.org / @physorg_com: http://nitter.platypush.tech/medical_xpress/status/1651957162577362949#m

RT by @physorg_com: Bold new therapy delivery method shows initial promise as treatment for Duchenne #musculardystrophy @CellCellPress https://linkinghub.elsevier.com/retrieve/pii/S0092867423003306 https://medicalxpress.com/news/2023-04-bold-therapy-delivery-method-treatment.html

Referenced link: https://medicalxpress.com/news/2023-04-protein-bves-important-role-muscular.html
Discuss on https://discu.eu/q/https://medicalxpress.com/news/2023-04-protein-bves-important-role-muscular.html

Originally posted by Phys.org / @physorg_com: http://nitter.platypush.tech/medical_xpress/status/1643699914784878592#m

RT by @physorg_com: Researchers investigate the protein BVES and its important role in #musculardystrophy @iumedschool @NatureComms https://www.nature.com/articles/s41467-023-37496-8 https://medicalxpress.com/news/2023-04-protein-bves-important-role-muscular.html

One would think #ElonMusk, who is disabled himself with #autism and malignant #Narcissist personality disorder, wouldn’t make fun of a fellow disabled laid off wheelchair-bound #Twitter employee with #MuscularDystrophy!

“Musk implied that #Haraldur, known as Halli, had not been fulfilling his job requirements at Twitter, while Halli asked whether Twitter would pay him the severance the company owes him now that he has been let go.”

https://bit.ly/3ZMi4A6

https://twitter.com/maxberger/status/1632963498824040449?s=12&t=4ZT29WNe_iCR2VIiSTnoWA

#elon #MuscularDystrophy #douchebagbillionaires #twitter #fascists

Elon Musk attacks disabled employee who sold his company to Twitter, which included a management job in the contract, in 2021, before Elon.

The man is disgusting. Taking jabs at his muscular dystrophy.

Thread at Nitter.
https://nitter.net/iamharaldur/status/1633082707835080705#m

#disability #MuscularDystrophy

#StemCells and #GeneTechnology against local #muscledefects, acute muscle wasting disorders, genetic #muscularDystrophy:
Start-up #MyoPax is breaking new ground to fight #RareDiseases.

#RareDiseaseDay @rarediseaseday @campusbuch
https://www.mdc-berlin.de/news/news/deep-expertise-and-bold-vision-myopax-launches-berlin

Dystroglycan / Muscular Dystrophy news:

N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy

#MuscularDystrophy #GlycoTime #Science #Research

https://elifesciences.org/articles/82811?utm_source=feedly&utm_medium=webfeeds

This is one of those stories that either is the start of something huge or will sink like a stone: not much in between.

#Tessera's claims are ambitious but not unprecedented. One of our clients does something similar with stem cells, and they have a product that's actually made it to market. As far as I can tell, Tessera is claiming the ability to do this in all kinds of cells, with whole living organisms. Which would be a really big deal.

From a bioinformatics / biostatistics perspective (you knew that was coming) I have Questions about consistency. Doing it once, or ten times, or a thousand, isn't enough. You need to do it *trillions*, very accurately indeed. With cell cultures you just screen out the cells that didn't do what you wanted and keep the ones that did: insert "bury their mistakes" joke here. And with stem cells it's particularly easy to know when you have it right.

"65 percent efficiency—20 times the rate at which it performed unintended or errant edits" sounds quite good on a cell-by-cell basis, although I'd like to see the error bars on those numbers. In a patient, it would be an unmitigated disaster. Congratulations, we've cured your muscular dystrophy ... and given you ten different types of cancer.

More generally, their secrecy does not fill me with confidence, of the 95% variety or any other. As I've said many times before, science done in secret isn't science at all, it's alchemy.

Well. It's early days yet. Let's just hope Tessera isn't another Theranos, because I am *really tired* of that. If they do achieve any of what they're claiming, I'll be cheering them on.

#genetics #geneediting #genewriting #stemcell #bioinformatics #musculardystrophy #cancer

https://www.the-scientist.com/bio-business/can-gene-writing-deliver-what-gene-editing-can-t-70740

Finally, an #introduction.

My name is Tim, I’m 49 years old, and I have FSH #MuscularDystrophy. I live in a neurological centre in the UK, and I write about living with a #disability (link in my bio).

I was a programmer when I worked (dBase and #FoxPro), and still tinker for fun, mostly in #PHP.

I like #ScienceFiction and #ScienceFact , especially #astronomy / space-based stuff, and consume related movies and books. I have music on at every possible moment in my day.

I adore #dogs and #cats.

@ascreaminpossum
I would ( and do) get them in an area that the muscles were weakening. Almost like a weird "deconstruction sign" that LGMD was going to commence screwing that area up next. Id say almost analogous to the fasciculations ALS does with folk.
The legs and abdominal areas were the most troublesome, and usually at night. My legs would ( and do) jerk about.
#musculardystrophy

@explainpaper Using Human Pluripotent Stem Cells to Create Human Skeletal Muscle Organoids for Repair and Regeneration

Skeletal #muscle is a type of tissue that makes up a large part of the human body. It is made up of many different cells that are able to contract and move. Skeletal muscle has the ability to #repair itself when it is damaged due to @aging, exercise, or diseases like #MuscularDystrophy. A small group of cells called #SatelliteCell s help with the repair process.