🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Elizabeth Vroom explains why the World Duchenne Organization Organization is part of the BIND Project. At the BIND webinar tonight, she will share her experience and moderate the questions from participants. 👉 Don't miss this opportunity! bindproject.eu/bind-patient-w…

#Apaperaday with Yuzu before going on a 2 week trip to visit N1 Collaborative Oligonucleotide Therapeutics Society and The Hospital for Sick Children (SickKids) meetings. Today's pick is a premonition to my Oligonucleotide Therapeutics Society #OTS2024 keynote lecture: a reflection on exon skipping therapy development by Aurelie Goyenvalle DOI: 10.1039/d4md00394b

#apaperaday Last 1 from home before embarking on a trip to Canada for meetings & lectures. Today's pick is world animal day themed, from animal genetics on a duplication mutation in the dystrophin gene of Entlebucher Mountain Dogs by Schwarz et al DOI: 10.1111/age.13475

#apaperaday from Toronto where I will give lectures on Wednesday & Thursday. Klaus & I enjoyed the train trip from Montreal. First pick we read en route is a review by Wei et al on histone modifications in Duchenne from Journal of Medical Genetics DOI: 10.1136/jmg-2024-110045

#apaperaday Today’s pick is by Wang et al , a bioRxiv that was presented by the senior author, Yoseph Barash in Porto at the RNA Horizon meeting and while he was presenting it, @roon_mom emailed the preprint 'look this is interesting' 😆DOI: 10.1101/2024.09.01.610696

🚀 Calling all patient advocates! The EURORDIS Open Academy Schools are now open for applications. Join EURORDIS-Rare Diseases Europe in Barcelona from June 2-5, 2025, for expert-led training on rare disease research and therapeutic development. Apply by October 26: openacademy.eurordis.org/open-academy-s…

Following a re-examination of available data, EMA’s human medicines committee (CHMP) has confirmed its previous recommendation to not renew the conditional marketing authorisation for Translarna (ataluren). Read the full article by EMA here: ema.europa.eu/en/news/transl…

#apaperaday Back from LUMC with as a first back home pick the report on the EMBARK clinical trial on Elevidys (formally delandistrogene moxearvovec) in Duchenne by Mendell et al in Nature Medicine DOI: 10.1038/s41591-024-03304-z

#apaperaday Today's pick if from Angewandte Chemie International Edition by Pan et al on self assembled antibody-oligonucleotide conjugates for muscle delivery of antisense oligonucleotides (ASOs) for dystrophin exon skipping. DOI: 10.1002/anie.202415272

True patient partnership means involvement from the start and consultation every step of the way. 🚶 We spoke to Dimitrios Athanasiou about how ERDERA is keeping everyone comprised of their work on data! World Duchenne Organization

#apaperaday Today we have a Kiki Totoro cross-over for a multidisciplinary workshop organized by TREAT-NMD® on early diagnosis of Duchenne (to segway from the TREAT-NMD® TACT meeting into Action Duchenne later this week). Paper by Lorentzos et al DOI: 10.1016/j.nmd.2024.104467

#apaperaday is Duchenne themed today as I'll be traveling to Action Duchenne meeting tonight and will present there tomorrow. The pick is from Acta Myologica by Luca Bello et al, a perspective on the The Lancet Neurology paper of the givinostat trial. DOI: 10.36185/2532-1900-637

Sarepta has decided to stop developing SRP-5051, a treatment for Duchenne muscular dystrophy, because some study participants experienced low magnesium levels and kidney issues that raised safety concerns. Read their community letter here: sarepta.com/community-lett…

#apaperaday Today again Duchenne themed for the @Action_Duchenne meeting that will start today. The pick is on gene therapy treatment readiness in Italian centers of expertise by Pane et al from Acta Myology DOI: 10.36185/2532-1900-487

#apaperaday Today not a paper but instead a perspective 🧵on the announcement of Sarepta Therapeutics to stop the development of vesleteplirsen, aka SRP-5051 due to safety concerns. These are my own personal opinions in an attempt to put things in perspective. parentprojectmd.org/sarepta-announ…

🗓️ Just a few days left to apply for Duchenne Patient Academy 2024! New patient advocates are encouraged to apply for this unique opportunity to learn advocacy skills & make a real impact. More information here 👇 worldduchenne.org/news/applicati…

#apaperaday Today's pick is again from Acta Myology, an expert perspective on transition and management of Duchenne patients in Italy by Spagnoli et al. DOI: 10.36185/2532-1900-447

⏰ Applications are almost closing for Duchenne Patient Academy 2024! Join us online on December 6 & 7 to gain essential advocacy skills, connect with experts, and learn about key topics like drug development, patient advocacy, and standards of care. → worldduchenne.org/news/applicati…

We urge EU member states to uphold the commitment to meaningful patient involvement during the upcoming negotiations. It is critical that patient representation is embedded in the legislation eurordis.org/epf-eurordis-j…