Quality assurance, variant interpretation and data management in the NGS diagnostic era, 12-14 October 2020.

Application deadline: 20 July 2020

More information from the EJP RD here.


The European Joint Programme on Rare Diseases (EJP RD) has published the pre-announcement for the Joint Transnational Call 2020. This call is for proposals on "Pre-Clinical Research to Develop Effective Therapies for Rare Diseases".

For more information please visit the EJP RD website: http://www.ejprarediseases.org/index.php/joint-transnational-calls/

Rare Disease Day 2020 will be celebrated this year on Saturday the 29th of February - a fittingly rare date! Coordinated by EURORDIS in partnership with National Alliances, the aim is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Lead-up events throughout the month will be organised by members of the rare disease community including patient organisations, healthcare professionals, researchers, and policymakers across 101 countries.

Rare diseases will affect 1 in 20 people in their lifetime, but their rarity often leads to delays in diagnosis, and means that information and treatment options can be limited. Rare Disease Day is an opportunity to strengthen international cooperation, vital for identifying and classifying these diseases, coordinating research, and providing access to treatment and support for patients, their families, and carers.

For more information, go to the Rare Disease Day 2020 website.


The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established by Solve-RD – an EU-funded research project. The overall aim is to boost research in rare diseases, discover new disease-causing genes and obtain evidence for pathogenicity through functional validation.

For more information, visit the following website.

2016 RE(ACT) Congress

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ERA-Net for Research Programmes on Rare Diseases
2016 RE(ACT) Congress

The 3rd edition of the RE(ACT) Congress – International Congress on Research of Rare and Orphan Diseases will be held from 9th to 12th March 2016 at the Crowne Plaza Barcelona – Fira Center in Barcelona, Spain. This congress is jointly organized by the Blackswan Foundation and E-Rare.

Preferential prices are available for
-    RE(ACT) community members (Free sign-up for the RE(ACT) Community here): 300€
-    E-Rare Granted researchers: 300€
-    Post-graduate trainees (MSc./PhD Students, research students): 200€
-    Students: 150€
-    Patients organizations: 200€.
You can profit from those special prices until the 18th of January : REGISTER NOW!!

The conference sessions will explore issues and cutting-edge technologies that affect many adult and pediatric conditions on the following topics :
-    Drug repositioning and personalized medicine
-    NGS and undiagnosed rare diseases
-    Pathophysiology
-    Bringing treatments to the clinic
-    Neurological diseases
-    Patients and research
The full program is now available.

The congress will bring together world leaders and young scientists from stem cell, cell biology, gene therapy, human genetic, or therapeutic applications to present state-of-the-art research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.

Before the official start of the RE(ACT) meeting, E-Rare will organize in collaboration with EMA a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 13:00 on the 9 of March 2015 in Barcelona. It will be open to all researchers and interested stakeholders.

The program will include 4 sessions:
- Pre-licensing activities of EMA with the presentation of relevant EMA services (COMP, SAWP, PDCO, CAT)
- Orphan designation and incentives for researchers including information on how to submit OD and Protocol assistance – how it works
- Lessons learnt from Horizon 2020 success stories on obtaining an OD
In addition, a face-to-face meetings with EMA officers session, dedicated to researchers that already prepared a draft submission package for OD or protocol assistance, will be organised in the afternoon (14:00 to 16:00).
The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer[at]agencerecherche.fr where you will get more instructions.

www.e-rare.eu contact@erare.eu