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.

EMA consultation on the proposal of a collaboration framework with Academia

EMA consultation on the proposal of a collaboration framework with Academia

The EMA calls for Academia participation! The European Medicines Agency, in order to implement the strategic priority of establishing a greater collaboration with Academia, is initiating a consultation process with the following objectives:

1.    explore opportunities  to better support  Academia in generating new medicines that meet regulatory standards;
2.    channel Academia’s advanced knowledge into the regulatory environment;
3.    assess the degree of awareness among Academics of the existing activities and incentives provided by regulators to support medicine development;
4.    refine regulators’ understanding  of Academia’s needs and expectations and develop a methodology for collaboration.

You are invited to participate to this process by answering a brief questionnaire that also provides space for comments and suggestions.
Please click on the following link to access the questionnaire: https://www.surveymonkey.co.uk/r/EMA_Academia_consultation

Your input is very valuable and will contribute to the achievement of the above objectives. Before you start answering the questionnaire, we recommend you to read the brief background paper that provides an overview of the issues at stake.
The questionnaire is composed of 12 questions and it should take approximately 10-15 minutes to complete.

The deadline for completing the on-line questionnaire is 15 April 2016.

If you would like to send to EMA a separate written contribution, please send it to Academia-consultation[at]ema.europa.eu specifying if it is a personal contribution or on behalf of your Organisation.

The data and contributions collected will be analysed and the results will be communicated to the respondents who will have identified themselves during this initial consultation.

E-Rare 2012 - Created by Toussaint Biger