Here you can find the main events organized by the EJP RD members, partners, and friends.
International Summer School on Rare Disease Registries and FAIRification of Data. 28 Sept - 2 Oct 2020. ONLINE.
The training course is open to the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients representatives.
To ensure active participation and exchange with teaching staff and participants, a maximum of 30 attendees will be admitted to each training module.
Registration is OPEN and it is possible for:
- the first training module: “Rare Disease Registries”, 28 – 30 September 2020
- the second training module: “FAIRification of Data”, 1 – 2 October 2020
- the entire course: “Rare Disease Registries” and “FAIRification of data”, 28 September – 2 October 2020
Deadline: 19 July 2020.
Quality assurance, variant interpretation and data management in the NGS diagnostic era. 12-14 Oct 2020. ONLINE
The aim is to teach participants about the evaluation of the pathogenic nature and clinical significance of genetic variants, on the criteria that have to be set to the NGS analysis pipelines and on the use of international databases.
The course will build on expertise gained by EuroGentest and help in the translation of research tools to diagnostic applications (in line with the IRDiRC vision and goals). The impact is on the quality and reliability of NGS results, obtained through rare disease research.
The training course will be ONLINE and it will be accessible to laboratory scientists (EBMG registered), junior laboratory scientists, clinical geneticists, other medical specialists in training, policy makers and assessors for laboratory accreditation, and patient representatives, with a basic knowledge in biology or medicine. To ensure active participation and exchange with teaching staff and fellow participants, a maximum of 40 participants will be admitted to the training course.
Registration is OPEN and free. Registration deadline is 15 August 2020.
The course and the registration are free of charge.
More info here.
European Conference on Rare Diseases & Orphan Products (ECRD). 14 -15 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 14-15 May – official statement can be read here -. More people than ever before will now be able to participate in ECRD from the safety and comfort of their own home, connecting via an interactive online platform wherever they are in the world.
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.
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 at glance is available for consultation. The conference’s full programme will continue to be updated as the content of each theme is being finalised and adapted to an online audience. We will keep you informed as this evolves.
Also, it would be very important register for the free ECRD 2020 pre-conference WEBINAR that will take place on Thursday 23rd April from 13.00 – 14.00 CEST. This webinar is an opportunity for you to hear the latest outcomes of the Rare2030 Foresight Study and understand how the study lays a foundation for policy discussions throughout each theme of the conference.
For more info, click here.
14 – 15 May 2020. Online.
RE(ACT) Congress 2020 - IRDiRC Conference is postponed.
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.
ERN-RND (virtual) Annual Meeting. 15 - 17 June 2020. Online
Due to the current COVID-19 pandemic, the format of the ERN-RND Annual Meeting 2020 which was scheduled to take place in Leuven, Belgium has been changed. A recorded session including the latest network updates will be sent to all ERN-RND members so that they can view it whenever is best for them. Please see the agenda for the three days below. More details will follow soon.
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.
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.
ERN-RARE-LIVER. ERN RARE-LIVER Members’ Meeting. 17 - 18 February 2021. Hamburg, Germany
ERN Rare Liver Annual Meeting has been postponed to 2021. More info will be provided.
ERN-RARE-LIVER. The School for Rare Liver Diseases: Improving diagnosis and care. POSTPONED to 18-19 June 2021. 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.
Due to the Covid-19 outbreak, the even has been postponed to 17-18 June 2021. Further info will be provided in the upcoming months.
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.
GA4GH 8th Plenary Meeting. 29 – 30 September 2020 | ONLINE
The 8th Plenary will bring together organizations and stakeholders from the genomics and health community for two days of keynotes, talks, updates, and workshops that will focus on advancing development work for the immediate data sharing needs of the community.
The meeting will consist of four session blocks convenient to different time zones. All talks will be available online after the meeting.
More info can be found here.
BioHackathon 2020. 9-13 November 2020 | Barcelona, Spain
BioHackathon activities are driven by practical sessions where people gather, discuss, and implement ideas/projects during intensive and productive coding sessions. The topics will be aligned to challenges proposed by ELIXIR platforms and and a set of common challenges proposed by the sister BioHackathon organised in Japan.
Registration is free and it is now open for this year’s BioHackathon Europe. If you have any doubts, please contact them at biohackathon-europe(at)elixir-europe.org
More info can be found here.
INFRAFRONTIER Training Courses
The INFRAFRONTIER Research Infrastructure and its partners offer a wide range of state-of-the-art training opportunities: Mouse clinics in different European countries provide outstanding trainings in first-line mouse phenotyping as well as specialised phenotyping courses covering e.g. mouse osteology and mouse blood and lymphatic vessel phenotyping.
The INFRAFRONTIER courses cover unique training opportunities in mouse model development as well as hands on cryopreservation courses offered by EMMA partners for many years.
The complete list of Upcoming Courses 2020 can be found here.
- ERN-RND. “Gait rehabilitation in people with Hereditary Spastic Paraplegia & Respiratory physiotherapy in parkinson’s plus syndromes” by Jorik Nonnekes & Martin Srp. 14 July 2020,
3 pm CEST
- EuroBloodNet. “Genetic counselling of Hemophilia” by Patricia Aguilar Martínez. 17 July 2020, 5 pm CEST
- EURO-NMD. “Introduction to MR Neurography” by Olivier Scheidegger. 23 July 2020, 2 pm CEST
- EuroBloodNet. “Hereditary Stomatocytosis” by Immacolata Andolfo. 24 July 2020, 5 pm CEST
- ERN-EpiCARE. “Role of EEG in diagnosis and management of status epilepticus” by Sándor Beniczky. 30 July 2020, 5 pm CEST
- EURO-NMD. “Painful neuropathies – from diagnosis to treatment” by Janneke Hoeijmakers. 20 August 2020, 2 pm CEST
- ERN-EpiCARE. “Epidemiology in childhood epilepsy” by Kari Modalsli Aaberg. 27 August 2020, 5 pm CEST
- ERN-RND. “Semantic variant of primary progressive aphasia” by Robert Rusina & Zsolt Cséfalvay. 8 September 2020, 3 pm CET
- ERN-RND. “How to assess and manage spastic gait in rare diseases?” by Gál Ota. 10 September 2020, 3 pm CEST
- ERN-RND. “A challenge in neurogenetics: Huntington disease in kids” by Ferdinando Squitieri. 15 September 2020, 3 pm CEST
- EURO-NMD. “The basics of genetic approaches for NMDs – using DMD as a paradigm” by Annemieke Aartsma-Rus. 17 September 2020, 2 pm CEST
- ERN-EpiCARE. “Incidence phenotypes and outcomes of epilepsy under 3 years of age: a national population-based cohort” by Joseph D Symonds. 24 September 2020, 5 pm CEST
- ERN-RND. “How can we develop and implement evidence based rehabilitation in rare disorders?” by Hortensia Gimeno. 29 September 2020, 3 pm CEST
- ERN-RND. “Treatment of spasticity in HSP and leukodystrophies” by Annemieke Buizer & Laura Bonouvrié. 6 October 2020, 3 pm CET
- ERN-RND. “Diagnostic algorithm for childhood onset chorea“by Juan Dario Ortigoza-Escobar. 13 October 2020, 3 pm CET
- ERN-RND. “Clinical practice recommendations for physical therapy for Huntington’s disease” by Bernhard Landwehrmeyer. 20 October 2020, 3 pm CET
- EURO-NMD. “Personalized care for patients with ALS: ALS Home monitoring & coaching” by Anita Beelen. 22 October 2020, 2 pm CET
- ERN-EpiCARE. “Sexuality and epilepsy” by Oliver Henning. 22 October 2020, 5pm CET
- ERN-RND. “Non-invasive stimulation for ataxias” by Bart van de Warrenburg. 3 November 2020, 3 pm CET
- ERN-RND. “Rehabilitation in ataxia: current evidence and practice” by Ludger Schöls. 10 November 2020, 3 pm CET
- EURO-NMD. “Congenital Myasthenia Syndrome – an update” by Sithara Ramdas. 19 November 2020, 2 pm CET
- ERN-RND. “Development of Sara-home: a novel assessment tool for patients with ataxia” by Gessica Vasco & Susanna Summa. 24 November 2020, 3 pm CET
- ERN-EpiCARE. “Non-adherence to treatment in epilepsy” by Oliver Henning. 26 November 2020, 5 pm CET
- ERN-RND. “Functional movement disorders: a diagnostic guide” by Christos Ganos. 1 December 2020, 3 pm CET
- ERN-EpiCARE. “AED-withdrawal” by Morten I Lossius. 17 December 2020, 5 pm CET