Newsletter - October 2020 ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏
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Update on Translational 'Summer' School 2021
This year has seen almost every face-to-face meeting, conference or event being cancelled, postponed or moved to an online format. Our Translational Summer School, which we organize in collaboration with TREAT-NMD, was no exception and sadly we were unable deliver it as planned earlier this year.
Both TREAT-NMD and ourselves really want to ensure we support the wider neuromuscular community by providing educational activities in 2021. That said, we also want to be certain that any effort we put into arranging things isn't in vein.
So with this in mind we have plan to deliver a series of 'Summer Webinars' in July 2021. This series of webinars will be the some of the highlights of past Summer Schools that we think would most effectively migrate over to an online format.
Then, to avoid what will hopefully be a busy conference period in the Autumn of 2021 we have planned to run our 'Summer School' in 7-11 December in Leiden, in the Netherlands.
Having carefully considered many factors we believe these options will provide the greatest impact for our community stakeholder.
Details of our Summer Webinar Series will be available in the webinar section of the website in due course.
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Applications now being taken for next round of bursaries
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We are delighted to be able to offer our bursary awards once more which have arranged to help those wishing to further their knowledge and understanding of neuromuscular conditions.
In response to the difficult times we live in we have had to adapt what we are able to offer successful applicants. Instead of help with travel, successful applicants will be able to spend their award on any books, journal subscriptions or registration fees for online conferences all of which must be demonstratively related to neuromuscular diseases.
Closing date for bursary applications will be 31st December and we will announce who has been successful in early 2021.
Please visit our current bursaries section of the website to find out more.
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EURO-NMD Board & Working Groups Meeting
7-11 December 2020
With the ongoing COVID-19 outbreak worldwide most meetings and conferences throughout 2020 have been cancelled, postponed or moved to an online format. Our December 2020 board and working group meetings is no exception. For reasons of safety and because of the ongoing travel restrictions across Europe, we will be holding the December 2020 Board and Working Groups Meeting online. We are currently working hard to develop a comprehensive agenda and it will be available shortly along with further logistical details.
We anticipate that this meeting will take the form of a series of virtual meetings and larger scale webinar style events spread over the days. Please save the date and we will have more information about the schedule of events, speakers, programmes and of course how to connect. Please note: this is a EURO-NMD event to cater for the requirements of our network partners and as such will be invitation only.
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ERN Euro-NMD Project Manager required
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The Institute of Myology is looking for a Project Manager (M/F) for ERN EURO-NMD
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic research, applied research, clinical research and teaching.
Main Purpose This management post within the Institute of Myology leads the strategic development and delivery of the EU-funded project European Reference Network (ERN) EURO-NMD to ensure the deliverables and objectives of this multinational project are achieved. This role will require an overarching view on all relevant international activities and liaising closely with key stakeholders to ensure the needs and input of EURO-NMD are coordinated and addressed. This will be achieved by providing a point of contact and comprehensive professional support service, on an international level, between the European Commission, local, national and international experts. It includes direct line management and development of the coordination team. The post holder reports internally to the EURO-NMD Coordinator (PI), with external responsibility to the European Commission, and is supported by the EURO-NMD coordination team.
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Research Mobility Fellowships 2020
The call for Research Mobility Fellowships is open twice a year and aims to financially support PhD students and medical doctors in training affiliated to ERN Full Members or ERN Affiliated Partners to undertake short scientific visits (secondments) fostering specialist research training outside their countries of residence and within one of the ERN host institutions. Applicants who will receive fellowships for Research Mobility should acquire at their host (secondment) institution new competences and knowledge related to their research on rare diseases and with benefit to their ERN. Fellows will be selected taking into consideration several elements such as: - Relevance and impact of the project, for the fellow, home and host institutions and the ERN as a whole
- Quality of the research proposal
- Organization and proposed methodology of the training
- Relevance of timelines and of required resources and budget
Research mobility fellowships are meant to cover 4 weeks to 3 months. The exchange will be accomplished exclusively within member institutions of the same ERN or between member institutions of different ERNs. Fellowship exchanges can only be facilitated between ERN full members or ERN affiliated partners. Their travel and accommodation expenses will be covered, up to fixed maximum amounts. Applicants/Application profile: - PhD students with a minimum of one year of research experience OR physicians having finished their first year of specialist training
- Be affiliated to an ERN Full Member or to an ERN-Affiliated Partner Institution from one of the 24 ERNs at the time when the application is submitted, as well as during the proposed period of the training stay
- The host (secondment) institutions must be Full or Affiliated Member of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay
- Added value to ERN of the mobility stay
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Duchenne Patient Academy
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Closing Date for Applications - 13th November 2020
Duchenne Patient Academy is open to DMD/BMD patient advocates, with selected days open to all NMD patient advocates who might be interested. It will be of particular interest to the following groups: individuals affected by DMD/BMD, patient organisations, researchers and clinicians. Patient advocates do not have to be connected to patient organisations. Attendees have the opportunity to participate in networking opportunities and various parallel sessions according to their preferences. - Duchenne Patient Academy is one of the leading worldwide patient advocacy events for the Duchenne and Becker Muscular Dystrophy (DMD/BMD) community
- The 2019 edition welcomed over 100 participants from 39 countries across the world
- Attendees receive training from global experts in the field of research, care, policy-making, regulations and funding
- The training will be open for Duchenne and Becker patient advocates, and is inviting other neuromuscular conditions to join selected days as well
- Over 85% of our alumni recommends DPA to receive training on patient advocacy and participate in networking opportunities
Patient organisations from other neuromuscular conditions such as Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), Facioscapulohumeral Muscular Dystrophy (FSHD) or NMD umbrella organisations are invited to join selected days of the programme. Please indicate the condition you are affected with or represent in the application procedure. Please note: this is an online event.
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Recent Publications
Below is a selection of recent publications that mention our network in some way which we thought you might find interesting.
If you are affiliated with our network and have referenced the network in a recent publication please tell us about it by going to the resources page and filling out the form entitled "Add a publication to our website"
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Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the expression of DUX4 in skeletal muscles. A number of therapeutic approaches are being developed to antagonize the events preceding and following DUX4 expression that leads to muscular dystrophy. Currently, the possibility to evaluate treatment response in clinical trials is hampered by the lack of objective molecular biomarkers connecting the disease cause to clinical performance. In this study we employed RNA-seq to examine gene expression in PAXgene tubes obtained from two independent cohorts of FSHD patients. Analysis of gene expression profiles did not lead to the identification of genes or pathways differentially expressed in FSHD patients, or associated with disease severity. In particular, we did not find evidence that the DUX4 and PAX7 signatures were differentially expressed. On the other hand, we were able to improve patient classification by including single genes or groups of genes in classification models. The best classifier was ROPN1L, a gene known to be expressed in testis, coincidentally the typical location of DUX4 expression. These improvements in patient classification hold the potential to enrich the FSHD clinical trial toolbox.
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Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD)
Pompe disease is a rare hereditary metabolic disorder caused by α-glucosidase (GAA) deficiency. The late-onset form of the disease (LOPD) is considered a multisystemic disorder which could involve vascular system with cerebrovascular abnormalities such as intracranial aneurysms or dolichoectasia. Intracranial aneurysm rupture may represent a life-threatening emergency. A possible treatment of unruptured intracranial aneurysms (UIAs) should consider both aneurysm-related (aneurysmal size, shape, localization, numbers and hemodynamic factors) and patient-related risk factors (patient’s age and sex, hypertension, smoke exposure). Moreover, UIAs management of LOPD patients needs also to take into account the altered blood vessels integrity and elasticity, whose consistency is likely weakened by the deficient GAA activity as a further potential risk factor. We herein present our approach for of UIAs management in three patients with LOPD. Among them, only one patient with a left saccular UIA of the anterior communicating artery, after careful consideration of risk factors, underwent the endovascular treatment. The other two patients were scheduled for a 1-year follow-up, according to radiological, clinical, and risk evaluation features. Finally, we would like to suggest some general recommendations for UIAs management. In particular, if no risk factors are identified, a cautious yearly follow-up is suggested; otherwise, if risk factors are present, endovascular treatment should be considered.
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Sleep-disordered breathing in adult patients with mitochondrial diseases
Objective To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases. Methods This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All subjects had a defined mitochondrial disease and were investigated by full night polysomnography. Results 103 consecutive patients were enrolled. SDB was demonstrated in 49 patients (47.6%). Regarding phenotypes, we found differences in distribution between the groups: patients affected by PEO with single or multiple mtDNA deletions frequently had obstructive apneas (50% and 43.8%) or REM-related hypoventilation when associated with m.3243A>G mutations (75%). Furthermore, a high percentage of subjects with MIDD and MERRF syndromes were characterized respectively by obstructive sleep apnea and REM-related hypoventilation. Differently from what is previously reported, central sleep apnea was rarely reported in our cohort. Conclusions SDB has a higher prevalence in MDs compared to general population-based data. Overall, these results suggest that patients characterized by a specific phenotype-genotype combination are most at risk of developing a specific subgroup of SDB. The early identification of this disorder is crucial in the management of these fragile patients.
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