Virtual Conference - European Human Genetics Virtual Conference-ESGH 2020.2
From 07 to 10 June 2020
At : Vienna-Austria
Events
The 2020 Living Rare Forum tentatively rescheduled
From 19 to 21 July 2020
At : Ohio-United States of America
European Cilia Conference 2020
From 07 to 10 October 2020
At : Cologne-Germany
Fragile X France International workshop for researchers & clinicians
From 09 to 10 October 2020
At : Paris-France
ERN CRANIO annual meeting 2020
From 14 to 15 November 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
On 27 November 2020
At : Brussels-Belgium
Courses
8th Rare Diseases Summer School
From 15 to 17 July 2021
At : Warth-Switzerland
Due to the Covid-19. outbreak, the 8th Rare Diseases Summer School is postponed to July 14-16, 2021.
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 rare diseases epidemiology database
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
Rare Diseases and Diagnostic Errors in Perinatal Medicine
A section of the book “Clinics in Perinatology, Undiagnosed and Rare Diseases” points out the fact that babies in neonatal intensive care are at risk of a diagnostic error. There is a need to better understand individual, systems and team to improve diagnosis.
Rare diseases and complex kidney diseases
An article of the Journal of Nephology highlights challenges encountered by people with rare diseases kidney, in terms of access of diagnosis and treatment, of needs for complex care, the absence of identification of the disease’s cause, and difficulties in monitoring disease progression.