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 10 Dec 2012

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ERA-Net for Research Programmes on Rare Diseases
E-Rare Newsletter 10 Dec 2012

On the 7th of December 2012 E-Rare opened its 5th Joint Transnational Call for Research Projects on Rare Diseases (JTC 2013). Fourteen countries have announced their participation: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Hungary, Israel, Italy, Poland, Portugal, Romania, Spain, Switzerland and Turkey.

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 i.e. a disease affecting not more than five in 10.000 persons in the European Community. Rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases are excluded from the scope of this call.

Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:

a) Collaborative research using patient databases and corresponding collections of biological material that would generally not be possible at a national scale. This research must have clear potential for clinical application and well defined scientific objectives e.g.:  

  • Definition of new nosological entities, epidemiological studies, genotype/phenotype correlations, natural history of diseases
  • Characterisation of the genetic/molecular basis of specific diseases

b) Research on rare diseases including genetic, epigenetic, and pathophysiological studies, using innovative and shared resources, technologies (OMICS, new generation sequencing, etc.) and expertises. The clinical relevance of this research must be clearly demonstrated.
c) Research on development of applications for diagnosis and therapies for rare diseases. This may include identification and characterisation of (bio)-markers for diagnosis and prognosis, development of innovative screening systems and diagnostic tools, the generation of relevant cellular and/or animal models, and preclinical studies using pharmacological, gene or cell therapies.
d) Patient oriented research in the area of social and human sciences - e.g. psychological, psychosocial and behavioural research - as well as health services, health economics and health policy research and research on ethical, legal and social issues in the field of rare disorders.

Interventional clinical trials are excluded from the scope of the call.

Project proposals must clearly demonstrate the potential health impact as well as the added-value of transnational collaboration: gathering a critical mass of patients/biological material, sharing of resources (models, databases, diagnosis etc.), harmonization of data, sharing of specific know-how and/or innovative technologies.

Joint research proposals may be submitted by higher education institutions, non-university public research establishments, hospitals as well as commercial companies, in particular small and medium-size enterprises (SMEs), according to relevant national funding organisations´ regulations for research funding. Whilst applications will be submitted jointly by groups from several countries, individual groups will be funded by the individual E-Rare-2 funding organisation respective of the country from which applicants have applied. The applications are therefore subjected to eligibility criteria of individual funding organisations. 
Applicants are strongly advised to contact their national representative and confirm eligibility with their respective funding organisations in advance of submitting an application.
Only transnational projects will be funded.

Each consortium must involve a minimum of three and a maximum of six research groups from at least three different countries participating to the call. Research groups from countries whose funding organisations are not partners in this E-Rare-2 call may participate in projects if they are able to secure their own funding. There must not be more than two research groups from the same country in one project proposal.

For more information, timeline and all necessary documents visit our website:


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

E-Rare 2012 - Created by Toussaint Biger