Compass-nmd

28/07/2025

What if a disease isn't caused by a single faulty gene, but by a "two-hit" combo?
🧬🔬 Our latest blog post from Folkhälsan Research Center dives into the emerging concept of digenic inheritance in muscle diseases. Learn how changes in two different genes can lead to conditions like certain myopathies, and how AI initiatives like CoMPaSS-NMD are set to unravel these complexities.

🔗 Find out more: https://compass-nmd.eu/2025/07/28/the-genetic-complexity-of-muscle-diseases-the-role-of-digenic-inheritances/

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The genetic landscape of muscle diseases is significantly more complex than initially anticipated. In the so-called Mendelian inheritance, genetic diseases are caused by DNA changes (mutations) in a single gene that lead to a molecular, cellular, or tissue defect, producing a predictable disease phe...

18/07/2025

Professor Dr. Benedikt Schoser from Ludwig-Maximilians-Universität München in Germany, is explaining the complexity of the histological examination in myopathies and how the CoMPaSS-NMD approach is reducing this complexity.

Join us in YIT 2025 webinars series!

Next webinar will be held in September 2025, stay tuned on the dedicated webpage: https://compass-nmd.eu/portfolio-items/training-courses/?portfolioCats=54%2C53%2C52

17/07/2025

💻 The CoMPaSS-NMD team welcome you to the 2025 edition of the Youn Investigator Initiative!

Tomorrow we'll kick off the series with the first webinar on the "Electronic Histological Data Clinic Report Form" with the interesting lecture of Benedikt Schoser, Professor Dr. at the Friedrich-Baur-Institute, Dep. of Neurology Ludwig-Maximilians-Universität München in Germany.

😉 We'll see you at 3:00 PM, online.

Not registered yet? Do that NOW at: https://forms.gle/Q37xme9DyXwQanHQA

11/07/2025

In one week, we're kicking off the 2025 webinar series for the CoMPaSS-NMD Young Investigator Programme.

You can register here: https://docs.google.com/forms/d/e/1FAIpQLSdLZwf8UN2e1p1-X_3m1KjlSJxxobikC2jGszRsBWojTR4AEA/viewform

We hope to see you there!

02/07/2025

Forget the sci-fi movies! The real game-changer in medicine isn't AI replacing us, but clinicians teaming up with AI to do amazing things. A new editorial in ACTA Myologica dives into how this partnership is transforming care for complex neuromuscular disorders.

Read the editorial here:
https://compass-nmd.eu/portfolio-items/newsletter2/?portfolioCats=9%2C6%2C8

Meet the CoMPaSS-NMD project! We're pioneering AI-driven strategies to understand these disorders better, leading to earlier diagnoses and personalized treatments. And thanks to our Young Investigator Training program, bright young minds are learning to wield AI's power to improve countless lives.

So inspiring to see collaboration making such a difference! ❤️

📅 Our next YIT webinar is scheduled for July 18, 2025, at 15:00 CEST. This session will focus on the electronic Histological Structured Clinical Form Report (eHCRF) in NMD.

You can find the full agenda and the registration link for July’s webinar in the YIT web page: https://compass-nmd.eu/portfolio-items/training-courses/?portfolioCats=54%2C53%2C52

Register now!

IMPORTANT! Upon completing the 2025 webinars and a practical tutorial demonstrating an eCRF examination, participants will receive a certificate of training. This certificate will also grant priority access to the next NMD School organized under the YIT framework.

EURORDIS-Rare Diseases Europe

01/07/2025

🚀 Exciting News from CoMPaSS-NMD! 🚀

We're happy to share the foundational architecture of the CoMPaSS-NMD ATLAS platform developed by !

This innovative web-based system is set to revolutionize how we manage and explore multidimensional biomedical data, including , , , and insights.

Our architecture prioritizes secure access, data traceability, and future interoperability, all built with a co-design methodology. We've implemented robust backend services, cutting-edge frontend technologies, and intelligent data models, featuring role-based access and metadata schemas derived directly from clinical practice.

Key features are already live and rigorously tested in both development and production environments, hosted on the Politechnika Śląska infrastructure. This modular and scalable design ensures seamless integration with advanced clustering models and phenotype ontologies.

This is a significant step towards enabling deeper understanding and accelerating research in neuromuscular diseases.

Visit the ATLAS webpage for more updates as we finalize and exploit this powerful platform: https://compass-nmd.eu/atlas/

24/06/2025

How can we unlock the power of in without compromising patient privacy? It's a critical question, and our recent article provides some answers!

In the CoMPaSS-NMD project, we're building cutting-edge AI for diagnosing neuromuscular diseases, all while meticulously upholding the highest standards of and complying with . Learn about our commitment to GDPR, the power of Federated AI for secure data analysis, and the robust protocols we've implemented for consent and data storage.

This isn't just about innovation; it's about building trust.
📰 Read more:
http://compass-nmd.eu/2025/06/24/regulatory-challenges-in-developing-artificial-intelligence-systems-for-neuromuscular-disease-diagnosis/

Navigating the complex landscape of data protection and Artificial Intelligence regulation in healthcare The integration of Artificial Intelligence (AI) systems in healthcare, particularly for diagnosing health problems or diseases, presents unique regulatory challenges. In the CoMPaSS-NMD project,....

17/06/2025

📣 CoMPaSS-NMD Young Investigator Training Webinar Series Relaunch!

We're excited to announce the relaunch of the CoMPaSS-NMD Young Investigator Training (YIT) webinar series!

🧑🏻‍🏫 For those new to it, the YIT initiative, started last year, is a platform for scientific exchange amongst young researchers and for education and training purposes.

💡 The idea is to assure high quality of clinical assessments by trained clinicians and to attract and bring together young researchers within the field of Diseases (NMDs) research teaching and training on the multimodal tasks (clinical, bioinformatics, imaging, histology, genetics, data mining and dissemination) necessary to see and treat a new generation of NMD patients.

Indeed, it is often challenging for junior researchers to get an informative outline in the field of a rare disease like NMDs. This is particularly true in the era of health and the multimodal approach to the investigation of inherited disorders.

🎯 To this end, we have organized in 2024-2026 six webinars on the innovative operative procedures developed within the project and harmonised between partners. The goal is to train a large group of investigators in Europe and associated and non-European countries in using the tools developed in CoMPaSS-NMD.

📅 Our next webinar is scheduled for July 18, 2025, at 15:00 CEST. This session will focus on the electronic Histological Structured Clinical Form Report (eHCRF) in NMD.

You can find the full agenda and the registration link for July’s webinar in the YIT web page: https://compass-nmd.eu/portfolio-items/training-courses/?portfolioCats=54%2C53%2C52

Register now!

IMPORTANT! Upon completing the 2025 webinars and a practical tutorial demonstrating an eCRF examination, participants will receive a certificate of training. This certificate will also grant priority access to the next NMD School organized under the YIT framework.

Feel free to share this invitation with your colleagues and junior fellows from collaborating institutions.

We look forward to your participation!

30/05/2025

📢 New Article Alert!

Excited to share the latest from the CoMPaSS-NMD project: "Federated Learning in Healthcare and for the Stratification of NMD Patients in CoMPaSS-NMD," now live on the Compass-NMD website!

In the era of AI-driven healthcare, safeguarding sensitive patient data is paramount. This article dives deep into how the CoMPaSS-NMD project is pioneering the use of Federated Learning (FL) to enable precise stratification of patients with hereditary neuromuscular diseases, all while ensuring robust data protection.

Key highlights from the article:
▫️ Protecting Patient Data: Discover how CoMPaSS-NMD implements stringent measures to secure highly sensitive clinical and genetic data, making patient privacy a foundational principle.
▫️ The Power of Clustering: Learn how machine learning algorithms group similar patients to enhance research, improve diagnostics, and support personalized care.
▫️ Centralized vs. Federated Learning: Understand the critical differences between these two AI training approaches and why FL is a privacy-conscious alternative for medical data.
▫️ CoMPaSS-NMD's Innovative Approach: See how the project is actively developing and testing a federated learning framework to balance powerful AI tools with uncompromising patient privacy.

This work is crucial for advancing our understanding of neuromuscular diseases and delivering more personalized treatments. We invite you to read the full article to learn more about the challenges, comparisons, and the significant contributions CoMPaSS-NMD is making to ethical AI in healthcare.

Read the full article here: https://compass-nmd.eu/2025/05/30/federated-learning-in-healthcare-and-for-the-stratification-of-nmd-patients-in-compass-nmd/

14/05/2025

Nuove speranze per i pazienti neuromuscolari! 💡

Sabato scorso a Modena si è parlato di e del ruolo rivoluzionario dell' nel futuro delle malattie neuromuscolari.
Un incontro importante con esperti, medici e associazioni come per capire le nuove possibilità offerte dal progetto europeo . Un futuro di e è possibile! 💪

Leggi l'articolo: http://compass-nmd.eu/it/2025/05/14/nuovi-orizzonti-nella-diagnosi-neuromuscolare-con-lia-compass-nmd-incontra-i-pazienti-a-modena/



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English version:

New hopes for neuromuscular patients!

Last Saturday in Modena, there was discussion about and the revolutionary role of in the future of neuromuscular diseases.

An important meeting with experts, doctors, and associations like to understand the new possibilities offered by the European project . A future of and is possible!

Read the article: http://compass-nmd.eu/2025/05/14/new-horizons-in-neuromuscular-diagnosis-with-ai-compass-nmd-meets-patients-in-modena/

09/05/2025

DOMANI è il grande giorno dell'evento organizzato da Unimore - Università degli Studi di Modena e Reggio Emilia che coordina il nostro progetto europeo -NMD, e UILDM Unione Italiana Lotta alla Distrofia Muscolare - Direzione Nazionale sezione di Modena: "Diagnosi di precisione e Intelligenza artificiale per i pazienti neuromuscolari: nuovi strumenti e nuove possibilità".

Vi aspettiamo dalle 10:00 alle 16:00 presso CCIA Modena – sala Leonelli – Via Ganaceto n. 134 – Modena.

Accesso garantito a persone con disabilità – Nessuna barriera architettonica!

05/05/2025

Mancano solo 5 giorni all'evento italiano CoMPaSS-NMD a Modena per pazienti affetti da malattie neuromuscolari, le loro famiglie e i caregiver.

Incontra i nostri relatori:

FILIPPO SANTORELLI Filippo Maria Santorelli è un neurologo e direttore dell'Unità di Medicina Molecolare per le Malattie Neurodegenerative e Neuromuscolari presso l'IRCCS Fondazione Stella Maris – Università di Pisa. Il suo background di ricerca include la genetica mitocondriale (Columbia University) e un dottorato di ricerca in Neuroscienze. In precedenza ha diretto la Genetica Molecolare presso l'Ospedale Pediatrico Bambino Gesù ed è specializzato in malattie neurodegenerative ad esordio pediatrico.

GIULIA RAFFAELLA DE LUCA Giulia Raffaella De Luca è una dottoranda in Salute e Tecnologia (Ingegnere Biomedico) presso l'Università di Bologna. La sua ricerca riguarda lo sviluppo di algoritmi di intelligenza artificiale per lo screening del cancro polmonare all'interno del gruppo AI for medicine. Promuove inoltre i principi FAIR e la scienza aperta.

BRANDO BENIFEI Brando Benifei è membro del Parlamento Europeo (Partito Democratico) dal 2014. È coautore dell'Artificial Intelligence Act (approvato a marzo 2024) e ora co-presiede il gruppo di monitoraggio del Parlamento Europeo per la sua implementazione. Nel 2024 ha ricevuto il premio "MEP of the Mandate".

LAURA FERRARI Laura Ferrari è una Public Affairs Specialist presso The Good Lobby, dove fornisce consulenza strategica di lobbying a organizzazioni della società civile senza scopo di lucro. Specializzata in politiche sull'intelligenza artificiale, coordina il Network for Digital Human Rights. Avvocata, ha maturato precedenti esperienze presso il Consiglio dell'Unione Europea e istituzioni italiane.

DAVIDE GOLINELLI Davide Golinelli è professore associato di Sanità Pubblica presso la Link Campus University (Roma). Il suo lavoro con l'AUSL Romagna e la Regione Emilia-Romagna si concentra sulla ricerca sui servizi sanitari, la gestione sanitaria, l'epidemiologia e le tecnologie sanitarie innovative, con competenze nei dispositivi medici, in particolare nel software come dispositivo medico.

MATTEO GALLETTI Matteo Galletti insegna Filosofia Morale e Bioetica all'Università di Firenze. La sua ricerca si concentra sull'impatto etico delle nuove tecnologie sui valori morali e sull'autodeterminazione. Presiede il Comitato Etico Territoriale dell'Area Vasta Centro, coordina il Comitato Etico per la Ricerca dell'Università di Firenze ed è membro del Comitato Etico Clinico dell'ASL Toscana Centro (già coordinatore, 2020-2023).

ROSSELLA TUPLER Rossella Tupler è professoressa associata di Genetica Medica presso l'Università di Modena e Reggio Emilia. La sua ricerca dal 1993 si concentra sulla distrofia muscolare facioscapoloomerale (FSHD) e sul ruolo delle ripetizioni di macrosatelliti nell'organizzazione del genoma. Coordina studi clinici ed epidemiologici, ha istituito un registro nazionale FSHD e ha guidato numerosi progetti di ricerca nazionali e internazionali.

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