Thank you for choosing our figure to illustrate the post! The author is not just a great researcher, but a #raredisease patient herself.
🥰
01.03.2026 07:59 —
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🧬 New Special Issue of JND out today to celebrate #RareDiseaseDay:
“RNA Therapeutics in Neuromuscular Disorders”
Exploring RNA-targeted approaches in Duchenne muscular dystrophy, Spinal muscular atrophy, Myotonic dystrophy and more: buff.ly/JOtdEJb
#Neuromuscular #RNAtherapeutics #DMD #SMA #DM1
28.02.2026 20:00 —
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In a new @wonkhe.bsky.social piece, RoRI fellows Anna Butters and @tomstafford.mastodon.online.ap.brid.gy explore distributed peer review - and what it can (and can’t) fix: wonkhe.com/blogs/a-new-...
18.12.2025 14:00 —
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Ey... que ya tenemos en marcha dos eventos!!
Bilbao el día de Pi (viernes 13 marzo) y Barcelona «Ciencia para salvar el mundo» (sábado 30 de mayo).
Si estás cerca o conoces a alguien a quien le interese, échanos una mano divulgando las fechas y programas 👇
23.02.2026 12:27 —
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You are right, we will have to do better next year.
20.02.2026 09:24 —
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#apaperaday with some delay due to train issues this morning. The pick is from @worldmusclesociety.org journal Neuromuscular Disorders, by Ulm Seiwert et al on 3 cases with duplications of dystrophin exons, only one of which associated with dystrophinopathy. DOI: 10.1016/j.nmd.2026.106335
19.02.2026 09:59 —
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Not all dystrophin duplications will be pathogenic and the analysis tools used generally will not be able to assess where the duplication is located (in tandem or not). Long read sequencing is expensive, but it can provide clarity.
19.02.2026 10:15 —
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A computer screen shows the RareDiseaseDay web page. In front of it, aa pile of pink, blue, purple and green balloons, glowsticks and paint jars.
When you are a #raredisease researcher and you search your drawers for ideas of what to do this year...
Finger paint? Balloons? Glowsticks? Party poppers?
A week to go...
#RareDiseaseDay #Shareyourcolours #Showyourstripes
20.02.2026 07:50 —
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⚠️ ATENCIÓN: se ha ampliado el plazo de solicitud de la FPU25 hasta el 27 de febrero. 📆
📩 Más información: www.ciencia.gob.es/InfoGeneralP...
17.02.2026 10:24 —
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#apaperaday again TREAT-NMD conference themed with today a pick from Scientific Reports by Okada et al, where they used a Japanese Duchenne patient registry (affiliated to the TREAT-NMD global registry) to generate a cost effectiveness analysis model. Doi 10.1038/s41598-025-32735-y
12.02.2026 07:25 —
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De la entrevista para @jotdown.es de @javisburgos.bsky.social
📸 Laura Peláez
#11defebrero
11.02.2026 15:15 —
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Y hoy hemos pasado de los alumnos de 16 a las mujeres de más de 55 que han pasado por el laboratorio en Biobizkaia para ver de primera mano que es lo que hacemos... y les han recibido tres mujeres estupendas: Andrea (postdoc), Nadia (predoc) y Uxue (TFM)...
#MujeresEnCiencia #11F #MujeresSTEAM
11.02.2026 18:31 —
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It is not! I love it when authors tell me why I should read their papers!
06.02.2026 22:55 —
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Ehem.
How much is a swirl?
A teaspoon? A tablespoon? A woodenspoon? 🤪
I need an SOP, I am a scientist!
02.02.2026 13:44 —
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a woman in a black dress is holding a piece of paper in her hands .
ALT: a woman in a black dress is holding a piece of paper in her hands .
The fat free yoghurt makes the "lemon curd + digestives" healthier?
Mmmm.. do not think so, but looks yummy, nonetheless. 🫠
(I think I would try with FULL FAT yoghurt and start testing all the "healthier" combos SYSTEMATICALLY)
01.02.2026 19:09 —
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Ayer en San Sebastián. Hoy en Bilbao.
31.01.2026 12:01 —
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Una recomendación importante: no se os ocurra bajo ningún concepto comprar nada en la tienda online AllZone. Pagas, no te mandan lo que compras, y para conseguir que te devuelvan el dinero tienes que hablar con tu banco para que les reclamen la pasta. Por favor rebluit para que no caiga más gente 🙏
29.01.2026 18:13 —
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In Spain, 28 December is Día de los Inocentes – a day of jokes and harmless pranks, much like April Fools’ Day in the UK. Don’t believe everything you hear today… you might be the inocente!
#DiadelosInocentes
28.12.2025 11:39 —
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¡Última #EntrevistaNaukas del año!
Qué bueno ha sido charlar con @oskarkimikarte.bsky.social: ciencia, arte, divulgación...
Gracias como siempre, @naukas.bsky.social cc @irreductible.bsky.social.
Aquí se puede leer entera. Hay que echarle un rato, que dio para mucho 👉 naukas.com/2025/12/21/o...
21.12.2025 12:05 —
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Quote from MDF Advocates Jeannine DeSoi, RN, and Dylan Farnsworth, PhD, "We're asking Congress to pass a full year NIH budget so research doesn't stall. Every delay in funding is a delay in future treatments for myotonic dystrophy."
Congress has not passed a full-year FY2026 budget, putting NIH funding for #MyotonicDystrophy research at risk.
Your voice matters. Urge Congress to protect and increase NIH support for DM research today: www.votervoice.net/Myotonic/Cam...
#DMResearch #NIHFunding #RareDisease #Advocacy
16.12.2025 18:14 —
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En la recta final de la llegada de las Navidades, recupero este hilo sobre Navidad y #migraña. El mensaje es para migrañosos y quienes los rodean.
19.12.2025 10:22 —
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Now RNA in Diseases session!
Great talks from Sara Melija on ER–mitochondrial contact sites in Rett syndrome, Elan McCarthy on the bioinformatic research of the DLK-DIO3 genomic region in breast cancer, and Kasia Whysall on oximiRs in muscle wasting.
#GalwayRNAResearchCluster
11.12.2025 13:47 —
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