In Modena, an event brought together individuals affected by neuromuscular conditions to explore the potential of artificial intelligence in achieving more precise diagnoses and offering hope for future advancements. On Saturday, 10th May, Modena hosted an event entitled “Precision Diagnosis and Artificial Intelligence for Neuromuscular Patients: New Tools and New Possibilities”, dedicated to patients, [...]
Zebrafish: a game-changer in muscle disease research. Researchers are increasingly turning to zebrafish as a powerful model to study muscle diseases, unlocking invaluable insights into the underlying biology of conditions like muscular dystrophy. With their transparent embryos, rapid development, and genetic similarities to humans, zebrafish offer a dynamic platform for exploring disease progression and [...]
Orphanet is a comprehensive online resource dedicated to gathering and providing information on rare diseases and orphan drugs. Established in France in 1997 at the advent of the internet, its primary goal is to improve the diagnosis, care, and treatment of individuals living with rare diseases. It maintains a database of rare diseases, including [...]
The challenge of diagnosing rare muscle diseases Imagine visiting a doctor for unexplained difficulty of walking only to be told that, despite advanced genetic testing, the cause remains unknown. This is the reality for many patients with rare neuromuscular diseases (NMDs) - a group of conditions affecting the muscles and nerves. Scientists have linked [...]
Neuromuscular diseases (NMDs) encompass a wide range of disorders that can affect the muscles and the nerves controlling them. From Duchenne muscular dystrophy to spinal muscular atrophy (SMA), these diseases present significant challenges for patients and their families, especially in understanding the underlying causes, disease progression, and available treatment options. One crucial element of [...]
Join us for this seminar as we delve into the complex and fascinating world of muscle behavior, exploring both normal function and the changes that occur in neuromuscular diseases. Who should attend? The workshop is primarily aimed at healthcare professionals and researchers in NMD but is open to anyone interested. DATE: 11 March 2025 [...]
Understanding muscular dystrophy through AI and genetics The power of precision medicine in neuromuscular disorders Muscular dystrophy is a complex group of genetic disorders that progressively weaken muscles, affecting mobility and quality of life. Traditional methods of diagnosing and categorizing these conditions rely on symptoms and genetic testing, but a new frontier is emerging. [...]
The Italian patient association ACMT-Rete per la Malattia di Charcot-Marie-Tooth published an article about our project CoMPaSS-NMD. Even with advanced tools for diagnosing neuromuscular diseases like Charcot-Marie-Tooth, many patients still don't get a clear diagnosis. This is a major hurdle for clinical trials. They are supporting our European project CoMPaSSNMD which will help speed up [...]
Congratulations to Joanna Polanska from Politechnika Śląska! We're thrilled that our AI & tech expert has been accepted as a member of the International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee. The IRDiRC DSC is a prestigious committee dedicated to accelerating rare disease diagnosis and research, ensuring all patients with suspected rare diseases [...]
What can our genetic background reveal? Unlocking new possibilities for neuromuscular disorder care through CoMPaSS-NMD approach. Our genetic background acts as an "instruction manual" for how we develop, function, and express various traits, including susceptibility to diseases, physical features, and even behaviors. For patients with neuromuscular disorders, this genetic diversity plays a crucial role [...]