Nous avenços per a la Distròfia Miotònica Tipus 1 a l'IGTP 🧪 És una malaltia minoritària que afecta entre 3.000 i 4.000 persones a Espanya bdncom.cat/notice/nous-av… #Badalona

We share one of our latest publications on incorporating #SpinalMuscularAtrophy (SMA) in #NBS programs across Europe, highlighting how patient advocacy organizations are a key partner for #equitable and #earlydiagnosis. oaepublish.com/ar

Read more about the impact and policy recommendations:oaepublish.com/ar

New article in the Rare Disease and Orphan Drugs Journal Special Issue on #Fabrydisease 2.0: #Neuropathy and #pain in #Fabrydisease by VK Medala and N Üçeyler. Read about clinical characteristics of neuropathy and neuropathic pain in FD, and current treatment options. doi.org/10.20517/rdodj…

👏👀Want to learn more perspectives of #RareDiseases and #OrphanDrugs field? We invite you to participate in The 1st RDODJ Ideological Collision Seminar. Here are event details: oaepublish.com/webinars/rdodj…. Looking forward to your active participation! #Duchenne #MuscularDystrophy

Gracias Ricardo. Añadir que ante neuropatía de fibra fina de origen incierto vale la pena descartar también 🦓 #EERR como la enfermedad de #Fabry ya que tiene estudio genético confirmatorio y tratamiento específico

Secondary #Raynaud phenomenon associate with several #rarediseases: 🚩Hematologic 🚩Collagen-vascular (autoimmune) 🚩Medication-induced (eg, cisplatin, bleomycin, beta-blockers...) 🚩Fabry disease 🚩Pheochromocytoma 🚩Acromegaly 🚩Paraneoplastic syndromes

¡ESTOY LLORANDO, pero de FELICIDAD! ¿Un tío con un 76% de discapacidad física y una parálisis cerebral en un cartel inmenso en medio de la calle más importante de Barcelona? Sí. ¿Y por qué no? ¡Va por vosotr@s! Gracias a Nike

Estou no “1º Simpósio Latinoamericano de Enfermedades Lisosomales" em Lima (Peru). Participei de três painéis, falando sobre a situação das doenças lisossômicas no Brasil, os recentes avanços nos tratamentos e o impacto da “Triagem Neonatal” no diagnóstico dessas enfermidades.

MPS-Lisosomales: La asociación que lucha constantemente contra las #enfermedadesraras elchecapital.com/local/mps-liso…

Our first work in #SanfilippoSyndrome analyzing #microbiota in two siblings harbouring the same mutation but differential gastrointestinal symptoms. Special thanks Stop Sanfilippo MPS papás FundaciónMutuaMad So eager to analyze the whole cohort!💩🔬 LINK: mdpi.com/1422-0067/25/1…

#Odimet A free online dietary calculation program used worldwide and developed by our unit which provides detailed information on proteins, fats, carbs, vitamins/minerals in >3000 foods &medical foods for Inborn Errors of Metabolism odimet.es doi.org/10.3390/nu1603…

👩🏼‍🔬 Què és el que + destaca del seu dia a dia la Dra. Anna Meseguer, cap del grup de Fisiopatologia Renal del #VHIR? 🎯 L'objectiu del grup és entendre els processos moleculars i cel·lulars que duen a una disfunció renal per desenvolupar nous biomarcadors i possibles tractaments.

Mientras en algunos lugares la prueba del talón se usa para detectar 11 enfermedades congénitas graves, en otros identifica 44 trastornos distintos. En The Conversation ES tres grandes: Belén Pérez González Lluis Montoliu y J. Mª Millán (IIS La Fe), lo explican. theconversation.com/cuando-las-des…

🚨 Thrilled to share! The latest IRDiRC publication, "Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing #rarediseases," is now live on Orphanet Journal of Rare Diseases with open access! 🔗 ojrd.biomedcentral.com/articles/10.11…

El XVIII Congreso Internacional de #MPS#Lisosomales fue un éxito, con excelente participación de pacientes, familias, voluntarios, clínicos e investigadores. Enhorabuena a la Asociación MPS España !!

🚨 Call for experts : IRDiRC seeks experts to support 5 new activities in rare diseases research : Preventive Medicines Regulatory Convergence Youth Engagement Stigma Bridging Diagnostics & Therapies 📅 Apply by Feb 9, 2025 For details : irdirc.org/call-for-membe…

New publication of the #FabryOutcomeSurvey (FOS) group: Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long term effectiveness of agalsidase alfa ERT. Your article link: authors.elsevier.com/sd/article/S22…

🔍New IRDiRC Paper: "What Matters Ethically About How the UDN Has Changed Since Its Inception"🧬 🌍 Emphasizing international collaboration + diagnostic equity 🎙️ Hear Dr. Dave Pearce on Ethics Talk: journalofethics.ama-assn.org/podcast/author… 📄 Read the article: journalofethics.ama-assn.org/article/what-m…

⭐️ New IRDiRC Publication ⭐️ 💡Regulatory sandboxes: A new frontier for rare disease therapies Flexible, structured spaces to safely test regulatory innovation for #RareDiseases. 🌍 Featured at the 2025 IRDiRC CA & SC meeting in Brussels. Read Now 📕sciencedirect.com/science/articl…