All 24 ERNs united to help Ukrainian people with rare disease
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Launch of a continuously open survey for ERNs HCPs to report Ukrainian refugees care.
In the context of the Ukrainian crisis, ERNs need to know how many patients with rare diseases get care outside Ukraine. In order to adapt the coordination, it became important to follow the needs to know if initiatives are adapted to the situation.
Thus, the ERN Coordinators Group launched a continuously open very simple form for each Ukrainian patient ERNs HCP have been managing.
If you are an ERN HCP that currently care for Ukrainian refugees, do not hesitate to complete this survey.
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ERICA 2nd General Assembly 20-22nd June 2022 in Bologna, Italy
All the ERICA beneficiaries, ERN representatives, Expert Group members, Advisors and partners will gather to face-to-face symposium to discuss the progress and future of the ERN related Research activities and to participate in the WP-Specific Expert Working Group sessions.
The 2nd General Assembly will be from 20th to 22nd June 2022, hosted by IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
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ERICA Collaborative inter-ERN Research Wall
ERICA aims to promote collaborative inter-ERNs research projects. The Research Wall has been created for centralising the announcement of any new project and search for collaborators.
It provides basic information about the open calls for collaboration as well as contact details of the project Principal Investigator. If you wish to receive updates directly by email you can register to the Research Wall mailing list
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EJP RD - Rare Diseases Clinical Trials Toolbox
The Rare Diseases Clinical Trials Toolbox has been developed by EJP RD as a practical aid for developers of clinical trials on medicinal products for human use regardless of therapeutic area.
The toolbox aims to collect the accumulated knowledge, experience, and resources (collectively termed as ‘tools’) generated by previous projects and/or research infrastructures and other organizations into a practical and guided toolbox to help clinical trialists and R&D managers understand the regulations and requirements for conducting trials, with special focus on investigator-initiated trials for rare diseases and applicable in Europe.
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EJP RD Research Mobility Fellowships call
The call for Research Mobility Fellowships aims to support PhD students, Postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
The exchange can be carried out either: within the same ERN (Full Members and Affiliated Partners), or between different ERNs (Full Members and Affiliated Partners), or between ERN Full Members / Affiliated Partners and non-ERN institutions. Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.
The Research Mobility Fellowships will open on May 2nd, 2022.
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EJP RD - FAIRopoly board game: FAIRification Guidance for ERN Patient Registries
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The board game FAIRopoly developed by EJP RD illustrates the FAIRification steps followed by the ERNs registries to make their data more Findable, Accessible, Interoperable, and Reusable.
The player starts the game on the top left corner of the board and moves around clockwise one tile at a time.
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ERN-BOND, the last five years and the future
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Update from EuRR-Bone (European Registries for Rare Bone and Mineral Conditions)
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Bone and mineral conditions case counter (since April 2020)
Transfer of server
On May 3rd, the registries’ database will be moved from Glasgow University in the UK to Leiden University Medical Centre in the Netherlands.
During a short period, the registry will be offline to secure a proper transfer. Afterwards all will be working as you are used to only from a different URL.
Users will require to use the following new links to access the registries:
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The Achondroplasia disease specific module is live. For this module we use 2 specific questionnaires and specific growth charts. You can find them here to review: https://eurr-bone.com/achondroplasia-disease-specific-module/
New conditions in e-REC:
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Osteonecrosis ORPHA399158: includes osteochondritis dissecans ORPHA2764, Osteochondrosis ORPHA399319 and avascular necrosis ORPHA399164
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Dysostosis ORPHA364568: includes non-syndromic limb reduction defects ORPHA93457 , Craniosynostosis ORPHA153
Drop in sessions EuRR-Bone
Drop-in sessions are scheduled twice every month:
· The second Friday in every month at 2pm CET (1pm UK)
· The fourth Wednesday in every month at 4pm CET (3pm UK)
Go to the website for the next meeting or drop an email on eurr-bone@lumc.nl to find out or make a private appointment.
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EuRR-Bone third newsletter is out.
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Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion
Alberio et al., J Clin Med. 2022 Apr 5;11(7):2025. doi: 10.3390/jcm11072025.
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Rare Skeletal Diseases Column on “Tabloid di Ortopedia”
Articles are in Italian only.
Soon published: “Multiple osteochondromas”, by Dr. Luca Sangiorgi and Dr. Maria Gnoli, Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy
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“Genetic and Genomics of Skeletal Disorders” Special Issue on ‘Genes' Journal, including rare skeletal diseases sub-topic.
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BOND members are invited in contributing to this Special Issue with a manuscript. A special rate for BOND members is provided by the Journal and ERN BOND will co-finance the publication costs on manuscripts on BOND-related topics (BOND contribution will depend on the number of eligible papers).
If you are willing to submit a manuscript please contact the Guest co-Editors, Dr. Elena Pedrini (elena.pedrini@ior.it) and Dr. Evelise Brizola (evelise.brizola@ior.it), together with the BOND Coordination Team.
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ERN BOND webinars
Details of upcoming webinars and recordings of past events are available at www.ernbond.eu/webinars/
Please contact the Coordination Team to suggest topics to be addressed in the ERN BOND webinars.
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Endo-ERN webinar: New growth treatments for Achondroplasia
On Tuesday May 10th from 16:00 to 17:00 CEST an Endo-ERN webinar about "New growth treatments for Achondroplasia" will be given by Klaus Mohnike, Jean Pierre Salles and patient representative Patrica Carl.
After registering, you will receive a confirmation email containing information about joining the webinar.
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ePAG Exchange of Good Practice Webinar Designing Surveys
ePAG exchange of good practices are regularly organized by EURORDIS throughout the year. ePAG advocates and other relevant stakeholders are invited to present their activities with the aim to guide others through their own experience, identifying success factors and lessons learned.
The next ePAG exchange of good practices webinar focusing on the topic of Designing Surveys will be on May 10th , 2022 from 16:00 to 17:30 CEST.
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ECTS Webinar Series: Bone, Muscle & Beyond
ECTS Organises Webinars on practical issues on Bone Muscle & Beyond topics, including basic and clinical research.
For registering and viewing the full program visit: https://ectsoc.org/education/e-learning/webinars/
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EJP RD trainings
2nd advanced webinar on “Composite endpoints including patient relevant endpoints (Quality of Life)”
The webinar consists in a lecture training in the relatively recent statistical inference with the flexible class of generalized pairwise comparison tests for multiple endpoints. Attendants will learn about the need for multiple endpoints in rare disease clinical trials and understand the limitations of methodologies that can handle multiple endpoints.
The lecture will focus on the properties and possibilities of generalized pairwise comparison tests, point out its advantages and disadvantages and illustrate its use and its straightforward interpretation with examples. Finally, the lecturer will reflect on some potential extensions and implications for trial design. A panel discussion with known experts from different fields bringing various perspectives of the topic will follow.
This training is an advanced level course. Knowledge of common statistical inference terminology is essential to successfully follow the course.
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International Summer School 2022: Rare Disease Registries & Data FAIRification.
The International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients’ representatives.
The training course will be held September 26th – 30th in an ONLINE FORMAT, given the uncertainties linked to the evolution of the Covid-19 pandemic and to the international situation.
REGISTRATION IS NOW OPEN until the 29th of May 2022
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Training for patient representatives and advocates on leadership and communication skills.
The course aims to teach participants presentation, negotiation and leadership skills, through plenary presentations and role-playing sessions, in order to improve their ability to communicate and represent needs in an assertive way, to influence important decisions and to guide the strategic decision-making, when engaging with healthcare providers and other rare disease stakeholders.
The training course will be held November 10th in an ONLINE FORMAT, given the uncertainties linked to the evolution of the Covid-19 pandemic and to the international situation.
The registration is now open for the RESERVE LIST until the 29th of May 2022.
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EJP RD ERN Workshop
Translational research on bone impairment in rare diseases.
The workshop "Translational research on bone impairment in rare diseases" aimed at giving an update on translational research on bone impairment in rare diseases and bringing together experts and trainees to facilitate collaborations.
The in-person event will take place over two days on June 9th – 10th at the Faculty of Medicine of Lyon in Lyon, France.
Registration deadline: May 1st
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Modelling & Simulation: Research methodologies for small populations in rare diseases.
The workshop “Modelling & Simulation: Research Methodologies for Small Populations in Rare Diseases” aimed at facilitating discussion and exchange of knowledge on the M&S methodologies and strategies as innovative and promising enough for facing complex multifactorial or rare diseases and conditions that require highly specialised treatments and resources.
The in-person event will take place over two days on July 4th – 5th at the Hotel Excelsior in Bari, Italy.
The training workshop is free of charge and the training methodology will be based on lectures, seminars, and practical sessions, aimed at providing concrete research skills.
Registration deadline: May 10th.
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Upcoming Events
CHUC-ASIC 3rd Meeting on Rare Bone Diseases
The Meeting takes place in Coimbra, Portugal, organized by Centro Hospitalar e Universitário de Coimbra (CHUC) e Associação de Saúde Infantil de Coimbra (ASIC) from 6th to 7th June 2022 at ISEC, Instituto Superior de Engenharia de Coimbra.
Abstract Submission deadline: 2nd May 2022
https://asic.pt/images/congressos/regr_sub_d_osseas.pdf
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ECTS 2022, 49th edition of the European Calcified Tissues Society Congress
The congress take place in Helsinki from 7th to 10th May 2022, with a pre-congress day on 6th May on “Optimizing the clinical management in rare bone disease” (ECTS-ICCBH WORKSHOP ON RARE BONE DISEASE).
The ECTS 2022 Congress will go ahead as an in-person meeting, supported by online live stream of scientific sessions.
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ECRD - European Conference on Rare Diseases 2022
ERN BOND is an Associate Partner of ECRD 2022: MISSION (IM)POSSIBLE: Putting rare disease policy into action, organized by EURORDIS and Orphanet.
The European Conference on Rare Diseases 2022 will take place fully online and is spread over 5 half days, from 27th June to 1st July 2022.
Programme at a glance: https://www.rare-diseases.eu/programme/
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3rd International XLH Symposium in Dublin
The 3rd International XLH Symposium is hosted by the International XLH Alliance on July 1st 2022 in Dublin, Ireland and organised in association with the 10th International Conference on Children's Bone Health (ICCBH).
This Symposium will bring together scientists and clinicians from a wide range of disciplines to gain a better understanding of X-linked hypophosphataemia and offer the latest in research and treatment management with sessions by world-leading experts.
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ICCBH 10th International Conference on Children's Bone Health
The ICCBH 10th will take place in Dublin from 2nd to 5th July 2022.
The Conference will bring together scientists and clinicians from a wide range of disciplines and from across the globe to gain a better understanding of the growing skeleton in health and disease.
Pre-meeting workshop co-organised by ERN BOND “2nd ICCBH-ERN BOND Workshop: Spinal Pathology Children with Achondroplasia” on 2nd July at 08:00-11:45 CEST. See the pre-meeting programme.
Abstract submission by 9th May 2022: https://www.iccbh.org/2022/abstracts/
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OI2022 - 14th International Conference on Osteogenesis Imperfecta
The OI2022, will take place in Sheffield from 30th August to 2nd September 2022.
The Conference will bring together scientists and clinicians from a wide range of disciplines, presenting cutting edge news from basic science, current research as well as medical and surgical treatment of OI.
ERN BOND co-organises the pre-meeting workshop: “Early life interventions and assessments” on 30 August 2022 at 10am CEST.
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1st virtual OIFE Investigator meeting
Osteogenesis Imperfecta Federation Europe (OIFE) is organizing it's first Investigator Meeting.
This virtual one day meeting will take place on Zoom on November 18th 2022 from 2pm at 7pm CET (8am- 1pm EST).
The target group is primarily researchers and clinicians working with OI, but anyone interested in OI-research can join.
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