Duchenne Centre Netherlands

🚨🎮👉Kijktip en vanaf a.s. vrijdag 25 oktober te zien op Netflix: The Remarkable Life Of Ibelin". Het verhaal van Mats Steen, een jongen met de ernstige spierziekte Duchenne waardoor hij bijna volledig verlamd is. Hij overlijdt op zijn 25e. Zijn ouders dachten dat hij eenzaam en totaal geïsoleerd was, totdat ze honderden mails kregen van mensen die vertelden hoeveel het overlijden van Mats hen aangreep. Hij bleek een alternatief leven vol vrienden te hebben, online, in World Of Warcraft. Een rijk, sociaal leven met betekenisvolle vriendschappen. Deze documentaire vertelt dit aangrijpende verhaal en laat zien hoe online gemeenschappen een bron van vriendschap en romantiek kunnen zijn en welke verschil technologie, en dan met name gamen, kan maken in het leven van iemand met een beperking. Mats’ verhaal is een krachtige herinnering aan de impact die we kunnen hebben op anderen, zelfs in de meest onverwachte omstandigheden. Klimmendaal, Radboudumc en HAN Paramedische Studies deden onderzoek naar gamen met een beperking. Daaruit blijkt dat in Nederland 73% van alle mensen met een beperking een hulpvraag hebben op het gebied van gamen. De resultaten daarvan lees je op de website van Klimmendaal (de link staat in de comments) Ook kan o.a. het Technisch Advies Team van Klimmendaal maar ook NMAGaming ondersteunen met advies over bijvoorbeeld aangepaste gamecontrollers of gameopstellingen. Want de boodschap blijft: Iedereen kan gamen, ongeacht de beperking! https://lnkd.in/eS4jjir7 . . . . . #revalidatie #onbeperkt #aangepastgamen #techadviesteam #TheRemarkableLifeOfIbelin #Netflix #MatsSteen #WorldOfWarcraft #Inspiratie #Documentaire Spierziekten Nederland NMAGaming Basalt Rijndam Revalidatie Revalidatie Nederland Duchenne Centre Netherlands Duchenne Parent Project Branchevereniging Esports Nederland (BEN) HAN Innovatiecentrum Esports & Gaming Kennisevent Esports, Gaming & Gamification HiPerks Foundation Bio Vakantieoord

Last week, the BIND project was presented at the 8th EPNS Research Meeting by Dr. Jos Hendriksen from Kempenhaeghe, with remote input from Prof. Eugenio Mercuri from Fondazione Policlinico Universitario Agostino Gemelli IRCCS. We are grateful for this opportunity to share ongoing research in brain related comorbidities in Duchenne and Becker MD.

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). This last round of assessment concluded that the effectiveness of Translarna has not been confirmed. Read the full article by EMA here: https://lnkd.in/evn2dmP2

As the World Muscle Society conference comes to a close, it has been an great experience connecting with both new and familiar faces! The Duchenne Centrum NL team leaves feeling inspired, with exciting potential collaborations ahead, and smiles from the fantastic social moments. We’re also proud of Laura Heezen and her supervisors for winning the prestigious President’s Prize for first presenter! A well-deserved recognition. Congratulations! Leiden University Medical Center Radboudumc Kempenhaeghe

Are contractures in Duchenne Muscular Dystrophy related to muscle function and what preventive actions may be needed or not? Pediatric physiotherapists Menno van der Holst and Evelien Fleerakkers have studied the association of contractures with function for both the upper extremities, including the shoulders, and the lower extremities. Catch their poster presentation at the World Muscle Society conference! #WMS2024 #Duchenne #MuscleFunction #ContracturePrevention #PediatricPhysiotherapy #NeuromuscularResearch Leiden University Medical Center Radboudumc

New insights emerging from the latest advances in both bulk and single-cell, as well as spatial transcriptomics! Pietro Spitali presented this research at the World Muscle Society, offering new perspectives on understanding neuromuscular diseases and their response to therapy through RNA biomarkers. One key example is the creatine: creatinine ratio, which has shown correlation with muscle function and its association with the loss of ambulation in Duchenne #NeuromuscularDisease #Transcriptomics #SingleCell #RNA #Biomarkers #SpatialTranscriptomics #MuscleFunction #Duchenne Leiden University Medical Center Duchenne Parent Project BIND

Exciting advancements in understanding the pathomechanism of dystrophinopathies through spatial transcriptomics! Laura Heezen, from the lab of Pietro Spitali, Annemieke Aartsma-Rus and Ahmed Mahfouz at Leiden University Medical Center presented her research at the World Muscle Society. Using a unique muscle dataset from Duchenne and Beckerpatients, she deciphered histopathological alterations revealing genes linked to the muscle’s spatial architecture in dystrophinopathies. #Duchenne #Becker #WMS2024 #Innovation #Transcriptomics #Histopathology #Biomarkers

Fantastic to feel inspired and connect with wonderful people at the World Muscle Society conference in Prague. I’m excited to present our FISMA framework, which captures real-world data in a relevant, reusable, and semantically interoperable way. While it is currently being used to collect standards of care for Duchenne and Becker, it has the potential to expand to new data sources like wearables, PROMs, and other neuromuscular diseases. Collecting high-quality, uniform, and interoperable data from the start is key, and we hope this model will be useful for various data sources worldwide. Thankful to work with our talented and supportive Duchenne Centrum Team World Muscle Society , thank you for organizing this interactive event Spieren voor Spieren TREAT-NMD Leiden University Medical Center #fair #healthcare #realworddata

A fantastic experience at the World Muscle Society conference in Prague. I had the opportunity to present our poster on the first results of a 10-year retrospective cohort study on swallowing and mastication problems and dental occlusal problems in Duchenne muscular dystrophy. It was a great chance to share insights and discuss with experts from around the world. A huge thank you to the WMS community for organizing such an impactful event. #WMS2024 #Duchenne Jan Groothuis, Corrie Erasmus, Saskia Houwen- van Opstal, Simone Knuijt, Marloes Lagarde, Duchenne Parent Project, Duchenne Centre Netherlands, World Muscle Society, Radboudumc

Enjoyed participating in the insightful discussion on optimizing care for neuromuscular disorders during the pre-teaching course at the world muscle society #WMS2024. #neuromuscular #optimalcare #empowering