Here you can find the main events organized by the EJP RD members, partners, and friends.
Biomedical Research Training Workshop Week. Implementing Biomedical Research Projects: The Complete Workflow from Concept, ELSI and Privacy Considerations to High-Quality Biobanking. 11 - 15 May 2020. Graz, Austria
This workshop is aimed at biomedical researchers, medical professionals and biobank managers who want to organise biomedical research projects on human biological samples. We welcome the participation of representatives from patient organisations.
In two modules we will use several use-cases to address the key issues in biomedical research involving human subjects, human biological samples and associated medical data: ethics, legal issues, privacy and data protection, data standardisation and the implementation of sample workflows in a clinical context that are compatible with the In Vitro Diagnostic Regulation.
In the first module, we will show participants how to obtain ethical, legal and regulatory counsel for their projects since regulations vary widely between European countries. In addition, we will provide practical guidelines on how to manage genetic data from human samples. The goal is to arrive at a logically organised checklist that prevents overlooking important issues that may be particularly challenging, e.g. in transnational collaboration. The second module will deal with procurement of samples and data in a workflow in a clinical context aligned with current CEN/ISO standards for preanalytical procedures.
Registration is OPEN.
11 – 15 May 2020.
Medical University of Graz, Austria
International course: Training on strategies to foster solutions of undiagnosed rare disease cases. 27 – 29 April 2020. Istituto Superiore di Sanità, Rome, Italy
This course will illustrate methodologies and tools already used internationally and will provide participants with useful examples for the resolution of undiagnosed cases.
To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted.
This course foresees four fellowships for participants resident, living and working in an EU13 Country.
The course and the registration are free of charge.
The course will be online.
27 – 29 April 2020.
Istituto Superiore di Sanità, Rome, Italy.
All the information and registration link can be found here.
Orphanet nomenclature and RD ontologies for RD research.
A new training module on Orphanet nomenclature and Orphanet Rare Disease Ontology (ORDO + HOOM) will soon be available in some countries involved in the EJP RD (from June 2020 onwards).
It is a face-to-face training module designed to take place for 1 day. It will be delivered in the national language of each country. It is designed to increase knowledge and know-how relating to the Orphanet nomenclature and its related rare disease ontologies (ORDO/HOOM). It is also designed to help identify and share best practices among professionals in the field. It is aimed at clinicians/researchers working with rare disease patients, data and to the other professionals who help them.
It will be adapted, translated by the Orphanet Network as a pilot project in a few countries before the end of the year 2020. The training course will then be organised in many other countries between January 2021 and March 2024, with a view on further dissemination in the future.
Dissemination and general information about the course will be done mainly through the Orphanet Network and here on the EJP RD website and related social media. The Orphanet Network countries selection process is currently ongoing and results will be published as soon as possible.
More detailed information about the training module and how to apply will also be published here as soon as possible.
RE(ACT) Congress 2020 - IRDiRC Conference is postponed.
European Conference on Rare Diseases & Orphan Products (ECRD). 15 -16 May 2020. Online.
The EJP RD is a full partner of the ECRD event!
The upcoming European Conference on Rare Diseases & Orphan Products (ECRD) will now take place online. Over 100 speakers will lead online, interactive sessions 14-16 May. Official statement can be read here.
ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.
The event draws together more than 800 participants from over 50 countries around the world. Leading, inspiring and engaging all stakeholders to take action, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators.
People living with a rare disease have the right to reach their highest potential of well-being; join us in ECRD 2020 Stockholm to take part in discussions to inform and build the future ecosystem for rare disease policies and services.
Program is available for consultation.
Early bird registration is open until 20 March 2020.
For more info, click here.
15 – 16 May 2020. Online.
ERKNET. 4th Annual Meeting of the European Reference Network for Rare Kidney Diseases. 13 - 14 May 2020. Online
The 4th Annual Meeting of the European Reference Network for Rare Kidney Diseases. The meeting has been transformed from a face-to-face into a virtual conference. On Tuesday (May 12), the 2nd ERKReg User Workshop will be held in the afternoon (1-4 PM). While the workshop is open to all attendees of the annual meeting, the primary target audience are the team members involves in the registry data management. Hence, please feel free to distribute this invitation within your teams. Due to space restrictions, we kindly ask you to limit participation to a maximum of 3 attendees per center (2 attendees of Affiliated Partner centers). Registration online is open.
More info here.
ERN-TransplantChild. 2nd workshop "Novel Strategies in paediatric Transplantation" has been postponed.
Considering the latest development on the COVID-19 spread in Europe and the numerous recent upgrade on travel restrictions for employees, the Organising Committee has decided to postpone the 2nd TransplantChild Workshop on Translational Research.
The main aim of the workshop is addressing training in the area of paediatric transplantation (PT) according to the holistic approach of the network and allows integrate educational activities in all type of transplant and a wide variety of professionals involved in all phases of the transplant. This workshop provides skills to perform a common and transversal approach to all types of PT procedure. This edition will be focused on medical and nursing team involved in the follow-up of paediatric transplanted patients. Continuing Education in Medicine of 6 learning hours has been requested to this workshop (UEMS EACCME® for CME accreditation).
More info here.
MetabERN. Preceptorship program on Treatable Lysosomal Storage Diseases (LSDs) – Management and Treatment. 29 June - 1 July 2020. Salzburg, Austria.
MetabERN, as part of the capacity building and training activities, in collaboration with the Clinical Research Center in Salzburg and the Brains for Brain Foundation, has organized this course that will host about 24 physicians from different countries who will share experiences and being updated on the recent developments in MPS. The meeting will also provide a comprehensive global forum for experts and participants to exchange ideas and present results on all aspects of MPSs.
The participants, a limited number of max 24 physicians (3 physicians each scenario, by bringing in each scenario 1 junior, 1 senior and one specialist), should be fluent in English and experienced in the management of these patients and providing ERT. Participants are required to attend for the entire length of the preceptorship.
IMPORTANT: Please note that participant fee and travel expenses (hotel room, train and flight economy class up to 500 Euro roundtrip) are covered and will be booked by CRCS GmbH. This preceptorship will be made possible by an unrestricted grant by Sanofi Genzyme.
More details and program here.
ERN-RARE-LIVER. The School for Rare Liver Diseases: Improving diagnosis and care. 3 – 4 July 2020. Hamburg, Germany.
Rare Liver Diseases are of increasing importance, and contribute a relevant proportion of the hepatological workload, especially in tertiary care centers. Care for Rare Liver Disease, like other liver disease, can only be provided with sufficient background knowledge and experience, which is very difficult to acquire in daily practice due to the relatively rarity of the respective disease.
The School for Rare Liver Disease aims at improving clinical knowledge for both paediatric and adult hepatologists, addressing particularly issues of transitional care such as paediatric liver transplant recipients becoming adults. In addition, organisation issues such as referral centers and the opportunities and chances through the new European Reference Network RARE LIVER will be discussed.
Application is open to young fellows under the age of 35 (born after 3 March 1985) and/or still in training. Travelling and housing costs will be covered.
Apart from lectures and group work on improving diagnosis and care for patients suffering from rare liver diseases, we are planning to present the school’s results in the form of webinars. On the evening of 3 July, participants can get a feeling of Hamburg’s hostspots.
Approximately 30 places are available for each school and priority is given to registered EASL members during the selection process. Deadline is 11 March 2020.
ERN-NMD. 3rd Neuromuscular Translational Summer School 2020. 6 – 10 July 2021. Leiden, Netherlands.
The Summer School has been postponed to July 2021 due to the Covid-19 crisis.
The EURO-NMD and TREAT-NMD building on the past two summer schools, organize this residential course that will furnish attendees such as researchers and clinicians with a well-rounded knowledge of the translational pathway. Attendees will also benefit from the very latest knowledge available in the neuromuscular community as this course is delivered by key stakeholder in the field.
Areas that were previously covered include…
- Neuromuscular diseases and current care and management practices
- Bench to bedside research
- Challenges for rare disease therapy development and networking solutions
- Tools of the trade for preclinical research.
- An introduction to TACT (TREAT-NMD Advisory Committee for Therapeutics) and a TACT mock review session
- Introduction to clinical trials
- How the regulatory system works
- The Industry perspective on drug development for rare diseases
- Outcome measures used in clinical trials
- TREAT-NMD tools for clinical trials
- PROM development
To ensure a high-quality learning environment class sizes are kept deliberately small. With this in mind, it is recommended applying promptly to ensure the maximum chance of successfully securing a place at their next Summer School.
Registration is open, for more info and application form click here.
EURO-NMD. Annual Meeting 2020. 18 - 20 November 2020. Budapest, Hungary.
Save the date!
Further information about the programme, venue, registration and speakers will be available in due course.
For more info click here.
dHealth 2020. 19 - 20 May 2020. Vienna, Austria.
Under the roof of the dHealth 2020, the 1st Symposium on ICT in Rare Disease Research will be held. Biomedical informaticians and computer scientists from within but also outside the EJP RD can send in scientific papers about new and innovative approaches to the many current RD ICT related challenges.
Prospective authors are invited to submit original papers (not being considered for publication elsewhere) in standard IOS press format in English with one of the following options:
– Full paper (maximum 8 pages)
– Short paper (maximum 2 pages)
Submissions will undergo an international peer review.
All accepted papers (both full and short papers) will be published “open access” by IOS Press in the Studies in Health Technology and Informatics series. Full papers will be indexed in PubMed and Web of Science, among others.
Student contest – Awards
Among all contributed student papers, the best papers written and presented by master and PhD students will be awarded in the categories Biomedical Engineering and Health Informatics.
Submissions Deadline: 31 January 2020
- EuroBloodNet. “Clinical management of rare forms of Hemochromatosis” by Domenico Girelli. 2 Apr 2020, 5pm CEST
- ERN-RND. Recognizing atypical parkinsonismby Wassilios Meissner. 14 April 2020, 3-4pm CEST
- ERN-RND. “Hypomyelination” by Nicole Wolf. 21 April 2020, 3pm CEST
- ERN-EpiCARE. “Diagnosis, treatment and prognosis of limbic encephalitis” by Albert Becker, Tobias Baumgartner, Christoph Helmstaedter, Rainer Surges. 23 Apr 2020, 5pm CET
- EuroBloodNet. “Bone marrow failures genetic diagnostic” by Regis Peffault de la Tour. 23 Apr 2020, 5pm CET
- ERN-RND. “Paroxysmal dyskinesias: update on clinical and genetic aspects“ by Giovanna Zorzi. 12 May 2020, 3pm CET
- EuroBloodNet. “How to approach older patient with Chronic Lymphocytic Leukemia” by Dominique Bron. 14 May 2020, 5pm CEST
- ERN-EpiCARE. “Epileptic seizure semiology: What can be inferred from ictal behavioural manifestations for clinical practice? Temporal lobe epilepsy” by Milan Brázdil. 28 May 2020, 5pm CEST
- EuroBloodNet. “Treatment of Cutaneous lymphomas” by Martine Bagot. 28 May 2020, 5pm CEST
- ERN-EpiCARE. “Diagnosis and treatment of epilepsy related to Ring Chromosome 20 Syndrome” by Sameer Zuberi. 25 June 2020, 5pm CEST
- EuroBloodNet. “Congenital dyserythropoietic anemias” by Roberta Russo. 25 June 2020, 5pm CET
- ERN-EpiCARE. “Role of EEG in diagnosis and management of status epilepticus” by Sándor Beniczky. 30 July 2020, 5pm CEST
- ERN-EpiCARE. “Epidemiology in childhood epilepsy” by Kari Modalsli Aaberg. 27th August 2020, 5pm CEST
- ERN-EpiCARE. “Incidence phenotypes and outcomes of epilepsy under 3 years of age: a national population-based cohort” by Joseph D Symonds. 24th September 2020, 5pm CEST
- ERN-RND. “Diagnostic algorithm for childhood onset chorea“by Juan Dario Ortigoza-Escobar. 13 October 2020, 3pm CET
- ERN-EpiCARE. “Sexuality and epilepsy” by Oliver Henning. 22nd October 2020, 5pm CET
- ERN-EpiCARE. “Non-adherence to treatment in epilepsy” by Oliver Henning. 26th November 2020, 5pm CET
- ERN-EpiCARE. “AED-withdrawal” by Morten I Lossius. 17th December 2020, 5pm CET