All 24 ERNs united to help Ukrainian people with rare disease
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All 24 European Reference Networks launched a dedicated website and social media campaign to collect information to help health professionals to find support for Ukrainian patients with rare diseases: diagnosis, treatment, advice.
Our health care providers, particularly those located in the countries currently receiving large numbers of refugees (Poland, Slovakia, Hungary, Romania) are ready to help Ukrainian patients with rare/very rare diseases, for specific diagnostic procedures and treatment.
These centers work in close cooperation with the ERNs they belong to.
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EJP RD - ERN Research Training Workshops call
The ERN Research Training Workshops funding opportunity is now open for applications until April 25th. The goal of the workshops is to train researchers and clinicians affiliated with ERN Full Members or Affiliated Partners in relevant topics on research in rare diseases.
The workshops will be delivered as two-day events. The costs for the workshop organization will be covered up to a limit of €25,000.
Organizer’s profile: The applicant submitting workshop topics must fulfil one of the following conditions:
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Affiliated to any EJP RD beneficiary institution
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Affiliated to an ERN Full Member
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Affiliated to an ERN Affiliated Partner institution at the time when the application is submitted, as well as during the period of the execution of the workshop
Submit your idea before 25th April 2022 https://www.ejprarediseases.org/ern-research-training-workshop/
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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 - 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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Update from EuRR-Bone (The European Registry for Rare Bone and Mineral Conditions)
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Bone and mineral conditions case counter (since April 2020)
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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Rare Skeletal Diseases Column on “Tabloid di Ortopedia”.
Articles are in Italian only.
April topic: “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.
New article: Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
By Lidiia Zhytnik, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks, Aare Märtson, Alessandra Maugeri, Katre Maasalu, Dimitra Micha
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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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Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival.
By Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02210-2
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Webinars
ERN BOND webinars
If you missed the last ERN BOND webinar “Human Body Movement & Scan Analyses: in state-of-the-art laboratories, in patients’ local area, at home”, Speakers: Alberto Leardini and Lisa Berti (Istituto Ortopedico Rizzoli, Bologna), the replay is now available at https://ernbond.eu/webinars/
Next topic: “Musculoskeletal avatar. A possible solution for creating digital twins in children with skeletal dysplasia”. Speaker(s): Giovanni Trisolino, Lisa Berti, Paolo Spinnato, Maria Grazia Benedetti (Istituto Ortopedico Rizzoli, Bologna).
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
MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back.
The third run of the MOOC (Massive Open Online Course) "Diagnosing Rare Diseases: from the Clinic to Research and back" will start on April 18th.
Registration is free and open at this link https://www.futurelearn.com/courses/rare-genetic-disease
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 in-person training will take place from September 26th – 30th at ISS in Rome, Italy.
Registration deadline: April 13th
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Training for patient representatives and advocates on leadership and communication skills.
The international course “Training for patient representatives and advocates on leadership and communication skills” is a 2-day training programme organised by Istituto Superiore di Sanità (ISS) in collaboration with EJP RD task partners, open to patient representatives involved in the 24 European Reference Networks (ERNs), including members of the European Patients Advisory Groups (ePAGS), and other RD patient advocates.
The in-person training will take place from November 10th – 11th at ISS in Rome, Italy.
Registration deadline: April 13th
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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: April 10th
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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
5th Annual meeting of clinical and molecular diagnosis of skeletal dysplasias: from research to clinical practice
Hybrid event organised by Karen Heath, our member from Hospital Universitario la Paz, Spain and will take place on Wednesday 20 April 2022 at 9 a.m.
A specific talk on ERN BOND, given by the Coordinator Dr. Luca Sangiorgi, is part of the scientific programme. The event will be mainly in Spanish. For further information please contact karen.heath@salud.madrid.org
Participation is free of charge. Registration is mandatory via ZOOM at https://zoom.us/webinar/register/WN_g3vrRKX0SpCFwvI-Y4zvyg
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ECTS 2022, 49th edition of the European Calcified Tissues Society Congress
The congress takes place in the city of Helsinki, from 7th to 10th May 2022, with a pre-congress day on 6th of May.
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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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.
An ERN BOND Session is also included in the scientific programme and planned on 2nd July at 08:00-11:45 CEST.
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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.
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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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