30th EURORDIS Round Table of Companies Workshop-Newborn Screening: Shaping the future
From 16 to 17 October 2020
At : Paris
Events
EJP RD Training - Quality assurance, variant interpretation and data management in the NGS diagnostic era
From 13 to 15 October 2020
At : Istanbul
ERN-EYE General Annual Meeting Virtual
From 15 to 16 October 2020
At : Strasbourg
ERN-EuroBloodNet 4th Board of the Network – Online meeting
From 23 to 24 October 2020
At : Paris
VASCERN’s annual seminar, VASCERN DAYS 2020
From 23 to 25 October 2020
At : Paris
Thrombotic-thrombocytopenic purpura-Patient-Information day for a rare disease
On 07 November 2020
At : Gutenberg
6th ERN PaedCan General Assembly-Virtual meeting
From 14 to 15 November 2020
At : Brussels
ERN CRANIO annual meeting 2020 - Cancelled due to uncertainties- Will be re-scheluded for another date - Online ERN Cranio sessions will took place in the meantime
From 14 to 15 November 2020
At : Barcelona
11th ERN Coordinators Group Winter Meeting
From 27 to 28 November 2020
At : Brussels
2020 Rare Drug Development Symposium
From 07 to 08 January 2021
At : California
Re (act) International Congress on Research Of Rare And Orphan Diseases
From 14 to 17 January 2021
At : Berlin
Re (act) International Congress on Research Of Rare And Orphan Diseases postponed due to the situation associated with the COVID-19 outbreak
First European Congress on Kawasaki Disease
From 15 to 17 January 2021
At : Paris
7th ERN PaedCan General Assembly-Virtual meeting
From 11 to 13 February 2021
At : Brussels
Huntington's Disease Youth Organisation - 1st Young Adult Congress
From 13 to 15 March 2021
At : Glasgow
ERN-EURO NMD 2021 Translational Summer School
From 14 to 24 July 2021
At : Leiden
RVA's biennial National Rare Disease Summit
From 13 to 14 November 2021
At : Sydney
Courses and educational initiatives
EJP RD Research Training Workshops
The European Joint Programme on Rare Diseases (EJP RD) Research Training Workshops are aimed at training researchers and clinicians affiliated to ERNs or affiliated partners in RD research topics. The themes of the training sessions include innovative research methodologies, interdisciplinary treatment approaches (gene therapy, transplantation), and diagnostic research methodologies.
The two EJP-RD calls are funding opportunities aimed at supporting short scientific visits. Candidates were called to register for the first call, the research training call, from 31 August until 12 October 2020. The second call, the research mobility fellowship, is opened from 1 October until 13 November.
EJP RD training on Biobanks for Rare Diseases-Toward Innovative Research Biobanks for Rare Diseases: Overcoming the Challenges
The EJP RD training session on Biobanks for Rare Diseases-Toward Innovative Research Biobanks for Rare Diseases: Overcoming the Challenges will focus on “Data Management & Quality Training”, and will be organised in different countries. The training session is organised in collaboration with the Instituto de Salud Carlos III of Spain. These training sessions will develop the capacity on data management of biobanks, and will as well promote FAIR (Findable, Accessible, Interoperable and Reusable) resources, and research reproducibility.
EMA’s Orphan Medicines Workshop 2020
On 30 November 2020, the European Medicines Agency (EMA) is organising a workshop aimed at supporting orphan medicines development. Members of small and medium enterprise medicine developers, healthcare professionals, ERNs, patients and academia are called to register to the workshop. Tools like orphan designation and protocol assistance will be explained during the workshop for further product development strategy.
Sanofi initiative MakeToCare Contest, 2020 edition
Sanofi launched the 2020 edition of MakeToCare Contest, an initiative that aims to support patients and caregivers in developing innovative solutions to improve the day-to-day life of people of any kind of disability. Candidates are called to submit applications to the 2020 MakeToCare call up to 15 October. This programme was launched in 2016 and the organisation has since witnessed 450 original projects.
Job opportunities
Information scientist in charge of Rare Diseases and clinical signs
Please send your CV and cover letter with the reference 2020-US14-001 to:
• Annie OLRY
• E-mail : jobs.orphanet@inserm.fr
• Tel : +33 (0)1 56 53 81 37
Project Manager for phenotypic similarity analyses in rare disease
Please send your CV and cover letter with the reference 2020-US14-002 to:
• Annie OLRY
• E-mail : jobs.orphanet@inserm.fr
• Tel : +33 (0)1 56 53 81 37
Rare diseases epidemiology database manager
Please send your CV and cover letter with the reference 2020-US14-001 to:
- Annie OLRY
- E-mail : jobs.orphanet@inserm.fr
- Tel : +33 (0)1 56 53 81 37
Media
Digital Health in Europe
A book on the digital health landscape in Europe has been published in German to accompany the German Presidency of the EU, aimed at highlighting the future challenges in this rapidly evolving environment. An article about Orphanet and cooperation within the EU and its advantages for patients with rare diseases is one of the contributions.
A study on the use of rare disease patient data extracted from social media
The authors examine the possibilities around extracting rare diseases patient data shared on social media platforms such as Twitter. They found that RD patients’ stories can be used to generate patient-centric knowledge, complementing data in clinical settings, and patient registries. The data was extracted during the 3-day Biomedical Linked Annotation Hackathon 6 (BLAH6). From Twitter, information data on amyotrophic lateral sclerosis and multiple sclerosis (cases of rare and intractable diseases) was selected. EThis experimental approach yielded positive results, but they identified problems around future attempts to mine information about rare diseases from social media.