Newborn Screening, with Professor Laurent Servais
Journal Of Neuromuscular Diseases Podcast · Episode
🎧 New podcast out now!
Prof Laurent Servais (joining us from a busy airport) chats with Dr Grace McMacken about the future of newborn screening for neuromuscular disorders.
👉 Listen here: buff.ly/zLMcu3B
#SMA #Neuromuscular #NewbornScreening
25.09.2025 11:55 — 👍 1 🔁 1 💬 0 📌 0
🫀 Myocarditis is a serious risk after gene therapy for Duchenne muscular dystrophy (DMD). In this new review paper, Kaufman et al. call for proactive cardiac monitoring & risk stratification to safeguard patients receiving AAV-based therapies. #DMD #GeneTherapy #Myocarditis
🔗 buff.ly/mhlJVGK
16.05.2025 11:03 — 👍 1 🔁 0 💬 0 📌 0
Knowledge on early motor milestones in #DMD is limited, but this is essential given increasing newborn screening and earlier age groups in clinical trials.
📑 This research study by Lowes et al sheds new light on DMD in <5 year age group.
➡️ Full report here buff.ly/x1Y7sCl
15.05.2025 16:07 — 👍 0 🔁 0 💬 0 📌 0
From our latest issue 🆕 research from @uottawa.bsky.social demonstrating peripheral effects before motor neuron loss in the #SMA 2B/- mouse model. Read the #openaccess paper here: buff.ly/51H530o #spinalmuscularatrophy #neuromuscularjunction
12.05.2025 16:09 — 👍 1 🔁 0 💬 0 📌 0
New insights into LAMA2 related dystrophies using international registry data @cureCMD - essential info on early clinical findings and natural history. Check out the full #openaccess paper here buff.ly/1zO5RUn
08.05.2025 11:03 — 👍 0 🔁 0 💬 0 📌 0
New #openaccess review by Dangouloff et al covers newborn screening (NBS) for neuromuscular diseases like SMA, Duchenne, Pompe, and X-ALD. Early diagnosis is crucial for effective treatment, but NBS is still underused.
Read more: buff.ly/tIqTeZy
#Genomics #RareDiseases
06.05.2025 14:03 — 👍 0 🔁 0 💬 0 📌 0
New original research from Manon et al provides novel insights into #myotonicdystrophy type 2, from the Dutch neuromuscular database. Their study shows ncreased risk of cardiac disease, pneumonia, and malignancies. Read the full report here: buff.ly/LhquCrS
05.05.2025 11:02 — 👍 0 🔁 0 💬 0 📌 0
NEW research paper in JND = open label extension study of the neonatal Fc receptor inhibitor Rozanolixizumab #MyastheniaGravis:
- Clinically meaningful and consistent improvement
- Acceptable safety profile
- Beneficial in AChR and MuSK MG
Read the report here journals.sagepub.com/doi/full/10....
30.04.2025 07:49 — 👍 0 🔁 0 💬 0 📌 0
The power of collaboration and data sharing for #raredisease. The data from this report from @TREAT_NMD is from more than 1700 patients with #myotonicdystrophy type 2, the largest cohort ever reported. Read it in full here:
26.02.2025 15:27 — 👍 1 🔁 0 💬 0 📌 1
New research by Hayes et al. - the "semitendinosus sign" can be a useful diagnostic tool in titin-related myopathy. Read the full paper here:
24.02.2025 15:19 — 👍 0 🔁 0 💬 0 📌 0
📊 In a first of its kind study, Ashrafi et al. compares real-world efficacy of oral risdiplam vs intrathecal nusinersen in 125 children with SMA type 2 and 3 over 6 months.
Read the full report here: https://journals.sagepub.com/doi/epub/10.1177/22143602241288087
#SMA #RareDisease
20.02.2025 19:51 — 👍 0 🔁 0 💬 0 📌 0
How many countries are screening newborns for #SMA? A new paper by Vrščaj et al surveys 86 experts from 80 countries on current implementation, therapy access, and future projections. Read the full paper here: https://journals.sagepub.com/doi/full/10.1177/22143602241288095
17.02.2025 16:47 — 👍 1 🔁 0 💬 0 📌 0
The latest issue of JND can be found here: journals.sagepub.com/toc/JND/curr...
Here you can also find the author and submission guidelines, editorial board and further journal statistics.
10.02.2025 10:06 — 👍 0 🔁 0 💬 0 📌 0
Hanns Lochmüller's research lab in Ottawa, Canada. Clinical and basic research in neuromuscular and rare disease. Posts by Hanns and team.
https://lochmullerlab.org/
Neuroscientist in the cell/gene therapy world. Working on gene editing for neuromuscular disorders. Keen reader, tea drinker. Bluesky-curious.
Professor of Neuromuscular & Skeletal Disorders, Keele University. I research pathologies and new treatments in rare neuromuscular & skeletal disorders.
www.thebowermanlab.com
Neuroscientist developing molecular therapies for neuromuscular and rare diseases 💪🫀🧠👁️🧪
@upvehu.bsky.social
@biogipuzkoa.bsky.social
ORCID: https://orcid.org/0000-0002-2409-8263
https://es.linkedin.com/in/ainara-vallejo-illarramendi-37441858
Physiologist interested in Muscle Biology and rare diseases. Senior Scientist at the Boston Children’s Hospital and Harvard Medical School.
Cell and molecular biologist interested in muscle regeneration, fibrosis, myopathies including OPMD, muscle aging as well as pharmacological, gene and cell based therapies
#myoblue
PhD (c) at McMaster University interested in neuromuscular plasticity and disease
• MD/PhD Candidate | Ervasti & Lowe Labs
• University of Minnesota MSTP
• Interested in muscle, physiology, & genetics
https://scholar.google.com/citations?user=M9ahMIAAAAAJ&hl=en&oi=sra
UK Myotonic Dystrophy & FSHD Patient Registries Manager at JWMDRC.
Pls follow: @jwmdrc-registries.bsky.social / @jwmdrc.bsky.social
(she/her) *Views my own*
#neuromuscular #nmd #PatientRegistries #dm1 #dm2 #fshd #RareDisease #research #genetic
Mom, progressive dem, feminist, Duchenne advocate
Associate Professor at the University of Copenhagen - https://bmi.ku.dk/english/research/exercise-and-muscle/ochala-group/
Genetic therapeutics researcher | Rare disease advocate | Sci-activist | Bengali SciFi writer | Overcaffeinated | Foodie | First-gen | 🇧🇩
♡︎/⟳ ≠ endorsement
Developmental Biologist, #CNRS researcher, studying morphogenesis, muscle regeneration and pathologies, and curious for all life sciences.
Lab website: https://helmbacherlab.org/
Professor of Neuromuscular Diseases at the John Walton Muscular Dystrophy Research Centre of the Newcastle University and Honorary Consultant in Genetics at the NHS Newcastle Hospital Trust. Member of the Neuromuscular diseases lab of Sant Pau Hospital.
Advocate for Duchenne muscular dystrophy healthcare and research. I champion patient partnership and co-design, direct democracy and ukulele.
The Myology Research Centre is a multidisciplinary research centre on muscle and its pathologies aiming to develop innovative therapeutical approaches, based on an understanding of the molecular pathophysiology of each disease https://recherche-myologie.fr
Centre d'expertise sur le #muscle et ses pathologies, créé en 1996, l'Institut de Myologie, avec ses 300 experts, a pour objectif de favoriser l’existence, la reconnaissance et l’essor de la myologie dans le monde.
http://www.institut-myologie.org
Translating science from bench to bedside and from jargon to lay language
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