The 2020 Living Rare Forum tentantively rescheduled for July 18-20
From 19 to 21 July 2020
At : Ohio-United States of America
Events
The Global Orphan Drug Conference and Expo
From 25 to 27 August 2020
At : Maryland-USA
46th Annual Meeting of the European Society for Blood and Marrow Transplantation
From 31 August to 03 September 2020
At : Madrid-Spain
GA4GH 8th Plenary Meeting
From 30 September to 01 October 2020
At : London-UK
European Cilia Conference 2020
From 30 September to 01 October 2020
At : Cologne-Germany
Fragile X France International workshop for researchers & clinicians
From 09 to 10 October 2020
At : Paris-France
EJP RD Training - Quality assurance, variant interpretation and data management in the NGS diagnostic era
From 13 to 15 October 2020
At : Istanbul-Turkey
ERN CRANIO annual meeting 2020
From 14 to 15 October 2020
At : Barcelona-Spain
Translational Research Conference, Bone Marrow Failure Disorders, From the cell to the cure of the disease
From 14 to 16 November 2020
At : Paris-France
RVA's biennial National Rare Disease Summit
From 21 to 22 November 2020
At : Sydney-Australia
11th ERN Coordinators Group Winter Meeting
From 27 to 28 November 2020
At : Brussels-Belgium
Re(act) International Congress on Research Of Rare And Orphan Diseases
From 14 to 17 January 2021
At : Berlin-Germany
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 16 to 17 January 2021
At : Paris-France
Huntington's Disease Youth Organisation - 1st Young Adult Congress
From 13 to 15 March 2021
At : Glasgow-Scotland
2021 National Rare Disease Summit
From 13 to 14 November 2021
At : Sydney-Australia
Courses
8th Rare Diseases Summer School-Due to Covid-19, the course is postponed to July 14-16, 2021
From 15 to 17 July 2021
At : Warth-Suizerland
International Summer School on Rare Disease Registries and FAIRification of Data
EJPD-RD will be organising the International Summer School on “Rare Disease Registries and FAIRification of Data”, an online summer course in Rome, Italy, from 28 September to 2 October 2020. The course, a 5 days training, will focus on “comprehensive, sustainable ecosystem and a virtuous circle between research, care and medical innovation.” The 5 days training course is composed by two modules, the first one on “Rare Disease Registries and the final two days on FAIRification of Data” (the first three days), and the second on “FAIRification of Data” for two days. Participants will come from international research community, medical specialists, registry curators, rare disease patient representatives, database managers, and healthcare professionals.
EJP-RD training courses on standards and quality of genetics/genomics data in laboratory and clinical research practice
The EJPD-RD training courses on standards and quality of genetics/genomics data in laboratory and clinical research practice aimed at reduce data fragmentation, and will contribute to data sharing and networking on rare diseases. Participants to the EJP RD training courses are laboratory scientists. The training will take place in Istanbul and the following ones are planned in Rome, Tuebingen, and Warsow. The registration for Istanbul edition is 20 July 2020. A mitigation plan (for online meeting) has been put in place due to COVID-19.
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 on phenotypic similarity analysis on rare diseases
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
Responsible of the database on rare diseases epidemiology
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
ERN-EYE SCIENTIFIC PROJECT MANAGER
Please send your CV and cover letter to:
• Mme Marion PEYSSOU
• Email : marion.peyssou@chru-strasbourg.fr
• Pr Hélène DOLLFUS
• E-mail : helene.dollfus@chru-strasbourg.fr
Media
A Journey of Hope, a short film on rare genomic diagnosis
‘Journey of Hope’ is a short film that invites the public to share the moment when a family with a child with a rare disease is delivered their diagnosis, focusing on the search for a diagnosis and the impact of the moment of diagnosis.