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.

E-Rare Newsletter December 2013

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ERA-Net for Research Programmes on Rare Diseases
E-Rare Newsletter December 2013
On the 5th of December 2013 E-Rare officialy opened its 6th Joint Transnational Call for Research Projects on Rare Diseases (JTC 2014). The following 16 countries participate in this call: Austria, Belgium (Flanders), Canada (including Québec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
This year the call is specifically dedicated to development of innovative therapeutic approaches for rare diseases. The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition (a seriously debilitating and/or life-threatening disease affecting not more than 5 in 10.000 people).
The research projects have to focus on the pre-clinical development of therapeutic approaches in suitable existing animal or cell models.
Therapeutic approaches can include (but are not limited to): cell based therapy; gene therapy and pharmacological therapy.
Rare infectious diseases, rare cancers and rare advers drug events in treatment of common diseases are excluded from the scope of the call.
The deadline for pre-proposal submission is 30 January 2014.
For more information, call text, guidelines, national contact points and all specific documents click HERE or visit our website www.e-rare.eu
We strongly encourage all future applicants to download and carefully read the documentation of the call. It is important to note that national agencies may apply their national, specific rules (may change every year) that must be fulfilled by the applicant.
On the demand of the research community we created a new, optimised module that will help you to find and contact potential collaborators.
How does it work?
A short registration form allows you to create your profile. Only few essential details must be indicated: your name, country, research area, etc. Once your profile is created it will be added to our database of rare diseases researchers. You can visualize and modify it.
How do I find a collaborator?
By clicking on "Looking for collaborations" button you will be redirected to the search engine. You can search either via a simple search or refine your search by indicating for example: country, research area or rare disease. A list of users will appear and you will be able to consult the profiles of selected users. You will have the possibility to contact each user via a contact form embedded in the profile.
How do I know that my personal data is safe?
The data of your profile is kept on a secure server. Your e-mail address will not appear on your profile. It will serve to communicate with the administrator and to create the contact form via which other users can communicate with you.
Why it is important to subscribe?
Only by creating your profile you will have access to other users but also give them the chance to find YOU!
We created a tool for the research community but the database of users must be created by yourselves. The more researchers will subscribe the more chances you will have to find your potential collaborators. Don't hesitate and register NOW!
www.e-rare.eu contact@erare.eu

E-Rare 2012 - Created by Toussaint Biger