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Last week a CPMS training session was held, mainly for new members but also available to current members. It was organized by the European Commission and therefore open to all. This session aimed to cover all the basics of the platform in order to become familiar with the tools. Following this webinar, we have decided to set up a number of tools, such as explanatory videos of the CPMS (EU LOGIN, opening of a panel...) thanks to these videos you will be able to choose the topics you want to explore and on which you have questions. We will index existing videos and produce new ones in order to create an index of links addressing the topics. They will be available soon. A CPMS blog has been set up and is already available on our website.
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Dear ERN Euro-NMD members,
In a few days, on July 6th, 2022, ERN EURO-NMD, the European Reference Network for Rare Neuromuscular diseases, will hold a Board Meeting back-to-back to the 17th International Congress on Neuromuscular Diseases (ICNMD 2022) at Square - Brussels' Convention Centre in Brussels, Belgium. This will be the first face-to-face meeting of the network since the pandemic and the first networking event under the new ERN grant scheme.
The whole coordination team is very happy to see you all there !
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Last week the EAN, European Academy of Neurology, congress 2022 took place in Vienna. There were no less than 8000 participants, it brought together neurologists and neuroscientists with the aim of networking and exchanging knowledge to address the biggest challenges in neurology. The EAN always makes room for Myology and Rare Diseases. From June 24th to June 28th, in piping hot Vienna, Euro-NMD held a booth at the 8th Annual Meeting of EAN. Euro-NMD Network members gathered and discussed the Euro-NMD Registry hub, progress on CPMS, and the training Mobility program, which is proving to be a big success. Other neurological ERN’s, ERN RND and ERN EpiCARE, were also present, which was very beneficial to the InterERN initiatives.
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Survey for patients: Unmet needs of rare and complex diseases related to pregnancy and family planning for patients and caregivers : (Available in 9 languages)
Now available in polish !
ERN Euro-NMD is participating in a transversal cross-ERN Study Group on Pregnancy and Family Planning in Rare, low prevalence and complex diseases.
The resulting surveys have the aim of collecting Europe - wide evidence on the management of this specific condition and bringing crucial added value in the lives of RD patients across Europe.
Completing and / or disseminating the survey is a great opportunity for you all to contribute to the important topic of pregnancy and we really appreciate your feedback.
If you would be so kind as to share these surveys with European-based patients and patient organisations, that would be very helpful.
📢 The deadline has been extended to July 31st!
A FEW MORE WEEKS...
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JULY 2022
Thursday July 7th – 16:00-17:00 Paris time
"Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches."
Delivered by Mario Gomes-Pereira & Arnaud Klein
Mario Gomes-Pereira has been working on myotonic dystrophy type 1 (DM1) and related trinucleotide repeat expansion disorders for more than 20 years. Today, Mario Gomes-Pereira conducts his research in the Myologie Research Centre (Inserm, Sorbonne University, Paris), a renowned institution of international recognition in the field of neuromuscular diseases.
Arnaud Klein has been working on myotonic dystrophy type 1 (DM1) and more generally on repeat expansion diseases for nearly 20 years. Now, Arnaud is a researcher in the team “Repeated expansions and myotonic dystrophies” led by D. Furling, and G. Gourdon within the Centre de Recherche en Myologie (Sorbonne University, Inserm UMRS974, Institute of Myology, Paris).
AUGUST 2022
⚠️⚠️ Due to the annual break of the coordination team, there will unfortunately be NO WEBINARS IN AUGUST but they will be back in September!
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In partnership with ERN-RND, ERN Epicare and EAN, we are pleased to announce that we will be participating in World Mitochondrial Awareness Week 2022 with a series of educational webinars delivered by experts. You can already start to register for these webinars, but places are limited so get in quick!!
Thurs September 1st 16:00-17:00 Paris time Mitochondrial Epilepsy
Wed September 21st 16:00-17:00 Paris time Mitochondrial Movement Disorders
Thurs September 22st 16:00-17:00 Paris time Mitochondrial Genetics
Thu September 29th 16:00-17:00 Paris time Mitochondrial Optical Neuropathies
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If you missed a webinar, don't panic! We record all our webinars and they are available on our website. |
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Tuesday 5 July 2022, 3-4pm CET
Young onset Parkinson’s disease, what is the difference? by Bart Post
The speaker is a neurologist at the Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour and the Center of Expertise for Parkinson and Movement Disorders, Nijmegen, the Netherlands.
Tuesday 12 July 2022, 3-4pm CET
Importance of autopsies in leukodystrophies by Marianna Bugiani
The speaker is a Neuropathologist at the Amsterdam University Medical Center, the Netherlands.
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The World Duchenne Awareness Day, which will take place on September 7th, is the official campaign to raise awareness for people living with Duchenne & Becker muscular dystrophy. Each year, an educational theme is chosen; this year’s theme is Women and Duchenne. Through the creation of specific educational materials, the event will highlight all the interconnected aspects of Duchenne and the female world.
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Muscles Matter 2022 seminar on fatigue will take place on Friday 15 July 1.30pm-3pm.
The aim of this webinar is to provide you with tips and ideas for managing fatigue - one of the most common symptoms experienced by people with muscle-wasting conditions. We will be hearing from different health professionals about factors that impact fatigue in muscle-wasting conditions. We will also have someone with a muscle-wasting condition share with us about how she has learnt to adapt to living with fatigue.
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SAVE THE DATE
18-22 July
Professor Michelangelo Mancuso is Scientific Director of this summer school. The 19th Catania International Summer School of Neuroscience will offer a high level, intensive educational program carried out by an excellent international faculty to 40 Ph.D. students, postdoc fellows and residency's students in genetics and neurology.
The main aim of the school is to bring together junior European fellows and expert investigators working on different aspects of Rare Neurological Diseases, from clinical perspectives to multiomics approaches, and to provide a forum for new directions and ideas in RNDs field.
The meeting will combine research lectures by leading neuroscientists from Europe and aims to encourage active discussions and exchange of information and ideas between seniors and young fellows.
The 19th Catania International Summer School of Neuroscience is endorsed by ERN EURO-NMD .
👉 More infos here ! 👈
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AFM-Telethon is pleased to announce that it will hold its 7th International Myology Congress in person, from September 12th to 15th, 2022 at the Nice Acropolis Congress Center, followed by mitoNice from September 15th to 17th, an international congress dedicated to Mitochondrial Medicine. A joint session in the afternoon of September 15th will ensure a smooth transition between the two congresses.
ERN EURO-NMD will have a booth, we will tell you very soon where you can find us.
We look forward to seeing you there !
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Within Screen4Care, an Innovative Medicines Initiative (IMI 2 JU), researchers are investigating medical specialists’ understanding, experience and attitudes regarding the application of machine learning (ML) in the diagnostic process of rare diseases. We are specifically focusing on the European Reference Networks (ERN) members as leading rare disease experts at international level. Input of EURO-NMD members on this specific issue would be particularly important and could help shape the future implementation of machine learning in the field of rare diseases in the EU. Therefore,we invite EURO-NMD medical members to participate in this brief online survey. Please, note that participation in this survey is equally encouraged even if medical professionals have not yet gathered experience with Machine Learning tools. Thank you !
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EJP RD is delighted to announce the launch on June 30th, 2022 of the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs. The database will be maintained actively!
Learn about the IMT : https://www.ejprarediseases.org/innovation-management-toolbox/
Access the IMT : https://imt.ejprarediseases.org/
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