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.

Results of Joint Transnational Call 2016

Results of Joint Transnational Call 2016

In December 2015 E-rare launched the eigth E-Rare joint call (JTC 2016) for funding multilateral research projects on rare diseases on “Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases”. Fifteen countries joined this call: Austria, Belgium, Canada (including Québec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, and Turkey.

The aim of the call was 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.

The process included a two-step submission and evaluation procedure.

In the first step a total of 30 eligible proposals were submitted. After careful examination by the Scientific Evaluation Committee (SEC), 20 proposals were selected for the second stage of evaluation. Each of the full proposals have been evaluated by at least two SEC members and two additional external experts during the first stage of evaluation and the reviews were sent to project coordinators in order to give them the opportunity of studying the assessments and commenting on experts' arguments and evaluations for the second stage of evaluation. Each of the full proposals and the answer to the reviews have been evaluated by at least three SEC members for the second stage of evaluation.

Following the second SEC evaluation and ranking of the best projects, 8 consortia with a foreseen budget of about 11.2 Mio € were selected for funding.

Selected projects:
Title: Dimethylfumarate for the treatment of bullous pemphigoid
Coordinator: Ralf Ludwig

Title: Hydroxychloroquine (HCQ) in pediatric ILD
Coordinator: Matthias Griese

Title: Nicotinamide for the treatment of Friedreich ataxia
Coordinator: Jörg Schulz

Title: Repurposed Enoxacin for the treatment of patients with Amyotrophic Lateral Sclerosis
Coordinator: Eran Hornstein

Title: Repurposing doxycycline in the treatment of AL amyloidosis
Coordinator: Giovanni Palladini

Title: Inhibition of Rho Kinase (ROCK) with Fasudil as disease-modifying treatment for ALS
Coordinator: Paul Lingor

Title: Propranolol for preemptive treatment of threshold retinopathy of prematurity
Coordinator: Christoph Bührer

Title: Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial
Coordinator: Dirk Fischer

E-Rare 2012 - Created by Toussaint Biger