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As we reflect on the 7th ERN EURO-NMD Annual Meeting, we wanted to take a moment to extend our gratitude to all our participants for their presence and contribution. The engagement in the discussions, presentations, and networking sessions brought a wealth of knowledge and energy to the event, creating an atmosphere of collaboration and inspiration. We are thankful for your commitment to advancing scientific knowledge and your willingness to share your expertise with fellow attendees. Moreover, the positive spirit throughout the event made it a pleasure for everyone to connect and exchange ideas. Thank you once again for being a part of EURO-NMD.
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The EURO-NMD Registry paper has just been published on the Orphanet Journal of Rare Diseases. As it is open access you can read it here: click to open in another tab We leave below a Q&A teaser about what is discussed inside the paper. Why EURO-NMD Registry Hub? - The EURO-NMD registry is connected to what is called ‘EURO-NMD Registry Hub’ through an interoperability layer
- The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange
- Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources.
- Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.
Click here to read the paper
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We are excited to announce the upcoming Summer School on Multidisciplinary Management of Neuromuscular Diseases co-organized by EURO-NMD and Filnemus, which will be held on 12-14 September 2024!
The program will bring together experts from various disciplines to explore the latest advancements and best practices in the field of neuromuscular disease management. Through a series of workshops, lectures, and interactive sessions, participants will gain invaluable insights into the multidisciplinary approach to diagnosis, treatment, and care coordination.
Save the date and join us for this enriching opportunity to enhance your knowledge and network with professionals dedicated to improving the lives of individuals with neuromuscular conditions.
More details, including registration information and a full agenda, will be shared soon.
We look forward to welcoming you to the Summer School on Multidisciplinary Management of Neuromuscular Diseases in Marseille, France!
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The 6th Neuromuscular Translational School organized by EURO-NMD and TREAT-NMD focuses on therapy development from bench to bedside with a focus on neuromuscular disorders.
The Translational Summer School contains lectures about the current state of the art of the management of acquired and genetic neuromuscular diseases, the different steps of drug development and the tools needed for this (outcome measures, biomarkers etc). It also stresses how patients should play a role in each of these steps and teaches how to communicate research to patients and the general public during interactive workshop sessions.
⚠️ APPLICATIONS WILL OPEN IN MARCH.⚠️
Stay tuned!
📆 9 - 12 July 2024
📍 Leiden, the Netherlands
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This survey will allow us to better identify the patient's symptom burden. This survey is only for adult patients (18 years and older) and must be completed by the patient only or the caregiver. Please note that the survey is anonymous, no sensitive data will be collected. We appreciate your collaboration in ensuring that as many patients as possible have the opportunity to participate. If you have any questions or require further information, please do not hesitate to reach out Prof. Michelangelo Mancuso (michelangelo.mancuso@unipi.it) and Manuela Lavorato (the project coordinator, manuelalavorato@gmail.com). Please share the survey link below. The survey must be completed no later than April 10th, 2024 (It will be available for 3 months starting from January 10th).
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Dear HCPs of EURO NMD, We are pleased to invite you to participate in the survey “Current screening and treatment to optimize bone strength in neuromuscular disorders: a survey among medical specialists”. This is initiated as preparation for the 274th ENMC workshop (January 2024). We were encouraged by patients involved in EURO-NMD to organize a workshop on this topic based on their experience of suboptimal bone health care and our recent review [Bouman K, Neuromuscul Dis. 2023;10(1):1-13]. I have invited three bone health specialists to co-organize this workshop: prof.dr. Leanne Ward, dr. Antimo Moretti and dr. David Weber. Background information on the topic is provided below.
You have been contacted by email twice. Thanks for your contribution if you have filled it out. If you have not done so, please take your chance to be involved in a survey on this important topic now! We would be delighted to receive a response of the majority o HCPs of EURO-NMD Nicol Voermans, neurologist on behalf of the ENMC workshop organizers
Radboud university medical center, Nijmegen, the Netherlands
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Mitochondrial Medicine - Therapeutic Development, the 8th meeting in this series will take place on 18-20 March 2024.
The conference will build new partnerships that harness our understanding of the disease mechanisms, accelerating the pace of effective treatments for mitochondrial diseases. This year’s programme will include discussions about recent discoveries on mitochondrial DNA (mtDNA) disorders to develop new therapeutic targets and the latest advances in gene editing and genomic technologies.
📍 Wellcome Genome Campus, Hinxton, Saffron Walden, United Kingdom |
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February 2024
Thursday, February 29th 2024 at 16:00 CET (Postponed from January, Muscle month)
"Rhabdomyolysis" Delivered by Prof. Antonio Toscano (University of Messina, Italy)
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March 2024
Thursday, March 14th 2024 at 16:00 CET (Postponed from January, Muscle month)
"New suggestions for management and treatment of patients with Pompe disease " Delivered by Prof. Antonio Toscano (University of Messina, Italy)
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If you missed a webinar, don't panic! All our webinars are recorded and made available on our website. |
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12 March 2024, 3 - 4 pm CET
The spectrum of genetic synucleinopathies Delivered by Leonidas Stefanis (University of Athens Medical School, Athens, Greece)
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SMA Europe takes great pride in inviting scientists and young researchers as well as clinicians and other healthcare professionals from all over the world to attend the 4th International Congress on Spinal Muscular Atrophy, from 14th to 16th March 2024 in Ghent, Belgium. SMA Europe is the European umbrella for national SMA patient organisations. One of its core activities is to foster patient-relevant research in the field of SMA, to communicate the value generated from research, and consequently to ensure future support for research within our community.
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The international congress dedicated to neuromuscular science, MYOLOGY 2024, will take place in PARIS on April 22th-25th, 2024. This 8th edition is expected to gather about 1,000 delegates from all over the world. In the wake of our past successful congress Myology 2022 in Nice, we look forward to welcoming even more participants in the capital city of France.
A few weeks before the Olympic Games, we will have more than ever the opportunity to highlight how our knowledge arising from neuromuscular diseases can lead to innovations also benefitting the general public. We will also have a global overview of the latest advances in muscle science with a specific focus on disease-modifying therapies and medical breakthroughs.
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The 12th edition of the European Conference on Rare Diseases and Orphan Products (ECRD), for which EJP RD is a partner, will take place on 15-16 May 2024, both online and in Brussels! It will be held as an official event under the auspices of the Belgian EU Council Presidency. ECRD is the largest patient-led, rare disease policy-shaping event held in Europe, aimed at identifying key priorities to forge a unified approach for the next EU legislative cycle.
The deadline for submitting poster abstracts for ECRD 2024 has been extended to 4th March 2024!
Register now !
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Recordati Rare Disease Foundation (RRDF) course "Metabolic myopathies - challenges and solutions" will be held in Split, Croatia on May 16-18, 2024. RRDF courses have already for many years been an excellent opportunity for all those who need specific education in the field of inborn errors of metabolism. The topic of metabolic myopathies is very interesting and extremely important for metabolic physicians, pediatric neurologists, neurologists and other health care professionals who work in this field. The course is run by an experienced team of neurologists, pediatricians, geneticists, physiatrist, and biochemist specialized in neuromuscular diseases and metabolic medicine, who already contributed substantially to the understanding of metabolic myopathies. This three-day interactive course will include lectures, seminars, case reports, debates, and patient stories and is targeted both to healthcare professionals who are new in the field and to those who would like to refresh their knowledge with a variety of new information on metabolic myopathies. The course will take place in the historical city of Split on beautiful Adriatic coast.
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The 57th annual European Human Genetics Conference will take place in Berlin, Germany from Saturday June 1 to Tuesday June 4, 2024. The ESHG conference provides a platform for the dissemination of the most recent advancements in the field of human genetics, both scientifically and technologically. It also fosters the education of the upcoming generation of human geneticists. The scientific program reflects this broad scope, inviting the best speakers for the invited talks and concurrent symposia, selecting the best abstracts for oral presentations, completed by poster presentations and a set of educational sessions. The conference is a unique opportunity to meet, share results, build scientific projects and collaborations and get inspired, whatever your professional background in human genetics.
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Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose. Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.
Rare Disease Day was set up and is coordinated by EURORDIS and 65+ national alliance patient organisation partners. Rare Disease Day provides an energy and focal point that enables rare diseases advocacy work to progress on the local, national and international levels. |
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The latest IRDiRC paper, "Drug Repurposing for Rare: Progress and Opportunities for the Rare Disease Community" has been published in Frontiers in Medicine.
The paper is available here.
This open-access publication, reflecting the collaborative efforts of the IRDiRC Drug Repurposing Task Force and the IRDiRC Therapies Scientific Committee over the past 1.5 years, is a significant milestone in advancing drug repurposing for rare diseases.
The paper delves into key insights gained from analyzing cases of drug repurposing in small population conditions. Lessons learned include the importance of sharing clinical observations, early engagement with regulatory scientific advice, and fostering public-private collaboration.
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You will join the laboratory of Translational Research in Neuromuscular Diseases at the Institut de Recerca Sant Joan de Déu-Hospital Sant Joan de Déu Barcelona. You will lead a project with the overall aim of investigating the application of gene and base editing strategies using various CRISPR /Cas9 and RNA-based systems for the correction of mutations in collagen VI genes that result in a severe form of congenital muscular dystrophy.
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