#duchenne — Public Fediverse posts

Circular RNA Therapy Restores Dystrophin in Duchenne Patients for the First Time

https://1ban.news/leaper-20-circular-rna-duchenne-muscular-dystrophy-therapy/
#1ban #leaper #circular #rna #duchenne #science

Circular RNA Therapy Restores Dystrophin in Duchenne Patients for the First Time

https://1ban.news/leaper-20-circular-rna-duchenne-muscular-dystrophy-therapy/
#1ban #leaper #circular #rna #duchenne #science

Solid Biosciences Reports First Quarter 2026 Financial Results and Provides Business Updates
https://atlas.whatip.xyz/post.php?slug=solid-biosciences-reports-first-quarter-2026-financial-results-and-provides-business-updates
Breaking: <p>- Duchenne (SGT-003)
#biosciences #financial #duchenne #european

𝗚𝗲𝗱𝘄𝗼𝗻𝗴𝗲𝗻 𝘃𝗲𝗿𝘁𝗿𝗲𝗸 𝘃𝗼𝗼𝗿 𝗺𝗼𝗲𝗱𝗲𝗿 𝗲𝗻 𝘇𝗼𝗼𝗻 𝗺𝗲𝘁 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲 𝗶𝗻 𝗞𝗼𝗽𝗲𝗻 𝗭𝗼𝗻𝗱𝗲𝗿 𝗞𝗶𝗷𝗸𝗲𝗻: '𝗚𝗲𝗲𝗻 𝘄𝗶𝗹𝗹𝗲𝗻, 𝗺𝗮𝗮𝗿 𝗺𝗼𝗲𝘁𝗲𝗻'

Sarah (40) schakelt de hulp in van het 'Kopen Zonder Kijken'-team voor een noodzakelijke verhuizing. Samen met haar 4-jarige zoon Lasse woont ze in een jaren 40-woning in Alkmaar, maar door de progressieve spierziekte...

https://www.rtl.nl/boulevard/artikel/5576017/sarah-spierziekte-zoon-kopen-zonder-kijken

#Gedwongen #vertrek #Duchenne

𝗚𝗲𝗱𝘄𝗼𝗻𝗴𝗲𝗻 𝘃𝗲𝗿𝘁𝗿𝗲𝗸 𝘃𝗼𝗼𝗿 𝗺𝗼𝗲𝗱𝗲𝗿 𝗲𝗻 𝘇𝗼𝗼𝗻 𝗺𝗲𝘁 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲 𝗶𝗻 𝗞𝗼𝗽𝗲𝗻 𝗭𝗼𝗻𝗱𝗲𝗿 𝗞𝗶𝗷𝗸𝗲𝗻: '𝗚𝗲𝗲𝗻 𝘄𝗶𝗹𝗹𝗲𝗻, 𝗺𝗮𝗮𝗿 𝗺𝗼𝗲𝘁𝗲𝗻'

Sarah (40) schakelt de hulp in van het 'Kopen Zonder Kijken'-team voor een noodzakelijke verhuizing. Samen met haar 4-jarige zoon Lasse woont ze in een jaren 40-woning in Alkmaar, maar door de progressieve spierziekte...

https://www.rtl.nl/boulevard/artikel/5576017/sarah-spierziekte-zoon-kopen-zonder-kijken

#Gedwongen #vertrek #Duchenne

𝗚𝗲𝗱𝘄𝗼𝗻𝗴𝗲𝗻 𝘃𝗲𝗿𝘁𝗿𝗲𝗸 𝘃𝗼𝗼𝗿 𝗺𝗼𝗲𝗱𝗲𝗿 𝗲𝗻 𝘇𝗼𝗼𝗻 𝗺𝗲𝘁 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲 𝗶𝗻 𝗞𝗼𝗽𝗲𝗻 𝗭𝗼𝗻𝗱𝗲𝗿 𝗞𝗶𝗷𝗸𝗲𝗻: '𝗚𝗲𝗲𝗻 𝘄𝗶𝗹𝗹𝗲𝗻, 𝗺𝗮𝗮𝗿 𝗺𝗼𝗲𝘁𝗲𝗻'

Sarah (40) schakelt de hulp in van het 'Kopen Zonder Kijken'-team voor een noodzakelijke verhuizing. Samen met haar 4-jarige zoon Lasse woont ze in een jaren 40-woning in Alkmaar, maar door de progressieve spierziekte...

https://www.rtl.nl/boulevard/artikel/5576017/sarah-spierziekte-zoon-kopen-zonder-kijken

#Gedwongen #Vertrek #Duchenne

𝗚𝗲𝗱𝘄𝗼𝗻𝗴𝗲𝗻 𝘃𝗲𝗿𝘁𝗿𝗲𝗸 𝘃𝗼𝗼𝗿 𝗺𝗼𝗲𝗱𝗲𝗿 𝗲𝗻 𝘇𝗼𝗼𝗻 𝗺𝗲𝘁 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲 𝗶𝗻 𝗞𝗼𝗽𝗲𝗻 𝗭𝗼𝗻𝗱𝗲𝗿 𝗞𝗶𝗷𝗸𝗲𝗻: '𝗚𝗲𝗲𝗻 𝘄𝗶𝗹𝗹𝗲𝗻, 𝗺𝗮𝗮𝗿 𝗺𝗼𝗲𝘁𝗲𝗻'

Sarah (40) schakelt de hulp in van het 'Kopen Zonder Kijken'-team voor een noodzakelijke verhuizing. Samen met haar 4-jarige zoon Lasse woont ze in een jaren 40-woning in Alkmaar, maar door de progressieve spierziekte...

https://www.rtl.nl/boulevard/artikel/5576017/sarah-spierziekte-zoon-kopen-zonder-kijken

#Gedwongen #Vertrek #Duchenne

Ataluren gegen Duchenne-Muskeldystrophie wurde in der EU 2014 auf Basis dürftiger Daten zugelassen. Erst im Frühjahr 2025 kam das Verbot.
Weiterlesen im aktuellen Pharma-Brief:
https://bukopharma.de/pharmabrief/pharma-brief-1-2026-ataluren-jahresrueckblick-und-malariabekaempfung/ataluren-elf-jahre-nutzlos-auf-dem-markt/
#Ataluren #Duchenne #Muskeldystrophie #Arzneimittelzulassung #EMA #PharmaBrief

Illustration by Guillaume-Benjamin Duchenne, from Mécanisme de la physionomie humaine (1862).

Source: National Science and Media Museum / Flickr: The Commons

https://pdimagearchive.org/images/b489328c-388a-4f1e-a927-52a04c73dac3

#electricity #duchenne #art #publicdomain

Illustration by Guillaume-Benjamin Duchenne, from Mécanisme de la physionomie humaine (1862).

Source: National Science and Media Museum / Flickr: The Commons

https://pdimagearchive.org/images/b489328c-388a-4f1e-a927-52a04c73dac3

#electricity #duchenne #art #publicdomain

They thought their son lived an isolated life. But when he died, friends showed up in droves.

https://web.brid.gy/r/https://www.upworthy.com/mats-steen-ibelin-world-of-warcraft-ex1

They thought their son lived an isolated life. But when he died, friends showed up in droves.

https://web.brid.gy/r/https://www.upworthy.com/mats-steen-ibelin-world-of-warcraft-ex1

Hola Titánicos, cada 7 de septiembre se celebra el día mundial de concienciación de Duchenne, este año bajo el lema "La familia: el corazón del cuidado", con el objetivo de informar y concienciar sobre la distrofia muscular de Duchenne, que afecta a unos 250.000 pacientes en todo el mundo, especialmente niños.

https://somosdisca.es/dia-de-concienciacion-sobre-la-enfermedad-de-duchenne-2025/

#díamundialdeconcienciacióndeDuchenne #distrofiamusculardeDuchenne #distrofiamuscular #enfermedaddeduchenne #Duchenne #debilidadmuscular #debilidad #salud #enfermedad #niños #saludmental #visibilidad #enferemdadrara #visibilidad #prevencion #cuidados #discapacidad #disca #disability #disabilities #titan #titanicos #itanico #gentetitanica

Nicki Lygo is doing a bit to raise money for Duchenne muscular dystrophy. Via Bluesky.
#Duchenne #GiveABit
https://bsky.app/profile/drlygo.bsky.social/post/3lx7z6eikqk2n

New treatment avenue for #Duchenne! Scientists find transcriptional adaptation can boost utrophin production in human cells - offering hope for new therapies🔬

https://www.mpg.de/24166261/0212-pfor-mechanism-for-treating-muscle-wasting-discovered-149770-x #DMD

New treatment avenue for #Duchenne! Scientists find transcriptional adaptation can boost utrophin production in human cells - offering hope for new therapies🔬

https://www.mpg.de/24166261/0212-pfor-mechanism-for-treating-muscle-wasting-discovered-149770-x #DMD

Im Nachtrag zum gestrigen Internationalen Tag der Menschen mit Behinderungen empfehle ich noch mal die Doku "Das fantastische Leben des Ibelin" auf Netflix, schon weil der Blickwinkel anders ist, als bei Dokus "über xxx" üblich.
Ja, es ist harte Kost. Und trotzdem schön.

#Gaming #Behinderungen #Freundschaft #Ibelin #Duchenne #DMD #WoW

Wenn ihr Zeit, Nerven und Netflix habt, guckt euch die Doku "Das fantastische Leben des Ibelin" an. Keine leichte Kost, denn es geht u. a. um Behinderung und Tod. Aber auch um Liebe, Freundschaft und Gaming. Vor allem liefert die Doku das vielschichtige Portrait eines Menschen, der andere berührt und beeinflusst hat.
Nicht inspirierend, aber berührend.
#Duchenne #WoW #DMD

Very disappointing news on the Duchenne muscular dystrophy front. Elevidys, the only available gene therapy for DMD has shown no significant improvement in motor function in kids receiving the treatment after 1 year. However, certain secondary outcomes showed some benefit.

It remains to be seen if FDA will allow it to stay on the market in the US, given that there are no other available treatments for DMD.

https://www.ajmc.com/view/sarepta-joins-pfizer-in-dmd-gene-therapy-trial-failures

#Duchenne #musculardystrophy #raredisease #genetherapy #elevidys #biotech #pharma

Copii români atinși de boala #Duchenne, la 🏰#PalatulElisabeta.

🔗 https://romaniaregala.ro/?p=93735

👑 #CasaRegală #FamiliaRegală #România 🇷🇴 #Articol #București

Una nuova terapia genica rivoluzionaria promette di smontare e ricostruire il gene "gigante" responsabile della Duchenne. All'Università di Washington hanno trovato un modo ingegnoso per aggirare i limiti delle terapie geniche tradizionali, frammentando e poi riassemblando la proteina chiave nei muscoli. I risultati sui topi? Eccezionali: non solo si ferma la progressione, ma si inverte il danno. Test umani previsti entro 2 anni.

#Duchenne #TerapiaGenica

https://www.futuroprossimo.it/2024/07/duchenne-in-2-anni-i-test-della-terapia-genica-per-la-distrofia-muscolare/

Una nuova terapia genica rivoluzionaria promette di smontare e ricostruire il gene "gigante" responsabile della Duchenne. All'Università di Washington hanno trovato un modo ingegnoso per aggirare i limiti delle terapie geniche tradizionali, frammentando e poi riassemblando la proteina chiave nei muscoli. I risultati sui topi? Eccezionali: non solo si ferma la progressione, ma si inverte il danno. Test umani previsti entro 2 anni.

#Duchenne #TerapiaGenica

https://www.futuroprossimo.it/2024/07/duchenne-in-2-anni-i-test-della-terapia-genica-per-la-distrofia-muscolare/

La Distrofia Muscular de #Duchenne es una enfermedad infantil que entra en #EnfermedadesRaras.
Con el muñeco #solidario Robi recogen fondos para #investigación. 20€.
En la tienda #solidaria hay mas productos o puedes hacer una donación en su lugar si lo prefieres.

https://www.duchenne-spain.org/producto/robi/

Zum #TagderSeltenenErkrankungen möchte ich gern Duchenne-Deutschland (ehemals Benni & Co.) vorstellen. #Muskeldystrophie #Duchenne ist auch so eine Arschlochkrankheit, die man niemandem wünscht.
https://www.duchenne-deutschland.de/

#RareDiseaseDay #RareDisease #AusGruenden

Zum #TagderSeltenenErkrankungen möchte ich gern Duchenne-Deutschland (ehemals Benni & Co.) vorstellen. #Muskeldystrophie #Duchenne ist auch so eine Arschlochkrankheit, die man niemandem wünscht.
https://www.duchenne-deutschland.de/

#RareDiseaseDay #RareDisease #AusGruenden

Copii români atinși de boala #Duchenne, la 🏰#PalatulElisabeta.

🔗 https://romaniaregala.ro/?p=86592

👑 #CasaRegală #FamiliaRegală #România 🇷🇴 #București

Hola Titánicos, cada 7 de septiembre se celebra el día mundial de concienciación de Duchenne, con el objetivo de informar y concienciar sobre la distrofia muscular de Duchenne, que afecta a unos 250.000 pacientes en todo el mundo, especialmente niños.

https://somosdisca.es/dia-mundial-de-concienciacion-de-duchenne-2023/

#duchenne
#visibilidad
#prevencion
#enfermedadesraras
#salud #enfermedad
#enfermedadrara
#discapacidad
#disability
#disabilities
#desafioduchenne
#WDAD16
#Duchenneawareness
#todossomosduchennebecker.

"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

"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

#Duchenne #Muskeldystrophie ist eine sehr seltene Krankheit, die schon in jungen Jahren zum Tod führt. Vor wenigen Wochen ist in den USA erstmalig ein Medikament zugelassen worden. Auf Open #Petition läuft gerade eine Abstimmung, dieses Medikament beschleunigt auch in Europa zuzulassen und ich bitte euch hier zu unterschreiben. Es wäre ein Hoffnungsschimmer für alle Betroffenen.
bitte #boosten
https://www.openpetition.eu/petition/online/hilfe-fuer-erkrankte-kinder-beschleunigte-zulassung-von-srp-9001-mit-muskelerkankung-dmd

#Duchenne #Muskeldystrophie ist eine sehr seltene Krankheit, die schon in jungen Jahren zum Tod führt. Vor wenigen Wochen ist in den USA erstmalig ein Medikament zugelassen worden. Auf Open #Petition läuft gerade eine Abstimmung, dieses Medikament beschleunigt auch in Europa zuzulassen und ich bitte euch hier zu unterschreiben. Es wäre ein Hoffnungsschimmer für alle Betroffenen.
bitte #boosten
https://www.openpetition.eu/petition/online/hilfe-fuer-erkrankte-kinder-beschleunigte-zulassung-von-srp-9001-mit-muskelerkankung-dmd

Last Thursday, the FDA voted to approve Sarepta's microdystrophin gene therapy for #Duchenne muscular #dystrophy.
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

This was not an easy call, made on the basis of a biomarker rather than efficacy data. I wrote about it last month for Nature Medicine.

#genetherapy #drugdiscovery #drugdevelopment

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

Last Thursday, the FDA voted to approve Sarepta's microdystrophin gene therapy for #Duchenne muscular #dystrophy.
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

This was not an easy call, made on the basis of a biomarker rather than efficacy data. I wrote about it last month for Nature Medicine.

#genetherapy #drugdiscovery #drugdevelopment

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

Marco Roos presents the Duchenne Parent Project #FAIRdata https://fairdata.systems/home/duchenne-parent-project/
Overall 7% of the population is affected by rare diseases. Delay to time of diagnosis estimated at 4-5 years. #rarediseases #duchenne
@biocuration2023 #biocuration2023

Marco Roos presents the Duchenne Parent Project #FAIRdata https://fairdata.systems/home/duchenne-parent-project/
Overall 7% of the population is affected by rare diseases. Delay to time of diagnosis estimated at 4-5 years. #rarediseases #duchenne
@biocuration2023 #biocuration2023

FDA will soon rule on whether a gene therapy for #Duchenne muscular dystrophy should be given conditional approval.
My colleagues Jason Mast &
@adamfeuerstein explore its story — and the devastating condition it targets. https://www.statnews.com/2023/04/17/sarepta-gene-therapy-duchenne-muscular-dystrophy-fda-decision/

FDA will soon rule on whether a gene therapy for #Duchenne muscular dystrophy should be given conditional approval.
My colleagues Jason Mast &
@adamfeuerstein explore its story — and the devastating condition it targets. https://www.statnews.com/2023/04/17/sarepta-gene-therapy-duchenne-muscular-dystrophy-fda-decision/

You like my new slipper/shoes from Montane?

I haven't worn any type of shoe since 1999 😮 I had surgery to cut my tendons in each ankle in 97 that they used to do for boys with Duchenne. It was a complete waste of time and made my feet weak and painful, so I stopped wearing shoes for 24 years.

#Shoes #Disability #Disabled #Health #Healthcare #Duchenne #Sheffield #Mastodon

You like my new slipper/shoes from Montane?

I haven't worn any type of shoe since 1999 😮 I had surgery to cut my tendons in each ankle in 97 that they used to do for boys with Duchenne. It was a complete waste of time and made my feet weak and painful, so I stopped wearing shoes for 24 years.

#Shoes #Disability #Disabled #Health #Healthcare #Duchenne #Sheffield #Mastodon

"The Lygo family 'End Duchenne' fundraising challenges!

We are holding this fundraising bonanza for Duchenne UK because a treatment breakthrough is in sight!"
@DrLygo

https://www.justgiving.com/fundraising/endduchenne

https://www.duchenneuk.org/

#uk #Duchenne #disability #disabled #sheffield #Monday #charity

"The Lygo family 'End Duchenne' fundraising challenges!

We are holding this fundraising bonanza for Duchenne UK because a treatment breakthrough is in sight!"
@DrLygo

https://www.justgiving.com/fundraising/endduchenne

https://www.duchenneuk.org/

#uk #Duchenne #disability #disabled #sheffield #Monday #charity