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The European Reference Networks have set up a support platform to help Rare Disease patients and their families caught by the ongoing Ukranian crisis. The adjoining link will give more information about any of the 24 networks dedicated to rare and low prevalence diseases funded by the European Commission. The ERNs members & affiliated partners are healthcare providers localized across Europes involving 25 European countries included Norway and are organizing themselves to support the victims of the ongoing war that suffer rare diseases and their families.
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On behalf of Prof. Pierre Carlier, we cordially invite you to participate in an Imaging Working Group Case Discussion session on Tuesday, April 12 at 5pm (CET) The Imaging Working Group regular meetings take place every 2 months. In these meetings, you have the opportunity to discuss interesting cases with different experts. Please do share this information with any colleagues who may find this excellent session of interest. If you want to discuss a case, please submit it to Pierre Carlier (pierre.carlier@cea.fr) before April 5th.
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With the effort of Reference Centres’ being directed toward patients, it is evident that ERNs would not find their legitimacy without involving them. In fact, patient representatives are involved in all aspects of governance, ethics, research, teaching and care in EURO-NMD. Patient participation is organised at two levels in EURO-NMD : 1) Participation in working groups (specialist disease groups, crosscutting specialist groups, and advisory boards) 2) Membership in the Patient Advisory Board In total, thirty-three patient representatives from 23 patient organisations and 11 countries are involved in the different EURO-NMD working groups. Patients are present in all the Boards and Committees of the Network.
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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 7 languages)
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 to also share these with European-based patients and patient organisations, that would be most helpful.
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UPCOMING Euro-NMD 2022 WEBINARS
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APRIL 2022
Thursday Apr 7th – 16:00-17:15 Paris time
"Duchenne Muscular Dystrophy genetic diagnosis" Delivered by Alessandra Ferlini, Rita Selvatici, Francesca Gualandi and Carl Fratter
Dystrophin (DMD) gene pathogenic variations cause dystrophinopathies, a spectrum of diseases mostly involving muscle, heart and brain. The webinar will offer an overview about DMD etiopathogensis, genetics, clinical pictures, diagnostic approaches, digital technologies applied to genetic counselling and will illustrate the new genetic guidelines.
Thursday Apr 21st – 16:00-17:00 Paris time
"Gene therapy, cancer and neuromuscular diseases" Delivered by Prof. Sabrina Sacconi
Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases. The main research topic of Prof. Sacconi is the development of new therapeutic strategies on neuromuscular diseases based on the understanding the role of genetic, epigenetic, endocrine and immune system deregulation in the progression of these diseases.
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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 April 2022, 3-4pm CET
The logopenic variant of primary progressive aphasia (lvPPA): language, cognitive, neuroradiological issues by Robert Rusina and Zsolt Cséfalvay
Robert Rusina is a neurologist and head of the Department of Neurology at the Thomayer University Hospital Videnska in Czech Republic. Zsolt Cséfalvay is a clinical speech and language pathologist, professor and head of the Department of Communication Disorders at the Comenius University in Bratislava, Slovakia.
Tuesday 12 April 2022, 3-4pm CET
Basal ganglia diseases in childhood by Belén Perez Dueñas
The speaker is a Specialist in Pediatric Neurology at Vall d'Hebron University Hospital and Principal Investigator in Pediatric Movement Disorders at the Vall d'Hebron Research Institute. Her work aims to improve the quality of care and promote research into neurological diseases that affect childhood.
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The 2022 European Paediatric Neurology Society Congress will be dedicated to “Precision in Child Neurology” in Glasgow, UK from the 28th April to the 2nd May 2022. The EPNS Congress provides an opportunity to learn about the latest developments in the rapidly evolving field of child neurology, including basic science, diagnostic methods, and novel treatments.…
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The entire EURO-NMD team is pleased to announce that we are now Associate Partner of #ECRD2022 Poster abstracts submissions for the ECRD 2022 are open until 21st April 2022. The ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and an international level to take place.More infos, registration & abstract submission : https://rare-diseases.eu
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The 8th EAN Congress is an European meeting that brings together neurologists and neuroscientists with the aim of networking and exchanging knowledge to address the biggest challenges in neurology. They have planned a meeting with a pan-European flavor, celebrating the opportunity to meet once more in person in a hybrid meeting that will also maximise virtual participation. It will take place on June 25 to 28, 2022 in Vienna, Austria !
Late-Breaking Abstract Submission will be open from 13 April to June 10, 2022.
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This combined webinar & workshop will provide an update on Solve-RD Sandbox services/functions, and also consider future plans, needs and possibilities. Intended participants include ERN data controllers/producers (to ensure that their data is being managed in ways they are happy with) and DITF members (to ensure they have services they need now and going forward). Thursday, 19 May 2022, 14:00 - 15:30 CEST
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The goal of the workshops is to train researchers and clinicians affiliated to ERN-Full Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value.  The workshops will be delivered as two-day events. Topics can be proposed by clinicians/investigators affiliated to ERN-institutions or EJP RD beneficiaries. 
Submit your idea before 25 April 2022 !
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Patient Reported Outcome (PRO) and Observer Reported Outcomes (ObsRO)
We would like to share with you the below request to participate in the development of an accessible repository of existing Patient Reported Outcomes Measures (PROMs) for Rare Diseases. As part of this initiative, which is led by the ERICA consortium where all 24 ERNs are represented, ERNs members, ePAGs and Affiliated Partners have been asked to answer a survey aimed at collecting available PROMs in the scope of their ERN. The link to the survey is HERE !
Please note that the survey will be open until the 15th of April 2022.
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