On 13th November 2015, the Commission Expert Group on Rare Diseases adopted Recommendations on Cross-Border Genetic Testing of Rare Diseases in the European Union. The Recommendations are addressed to the Member States and the European Commission and focus specifically on the issues of cross-border testing. There is significant variation between EU Member States in terms of the number of genetic tests available in-country for RD – some countries test for fewer than 20 genes, whilst others test for over 2000. Even with the increasing use of Next Generation Sequencing, there will remain a need for countries to conduct some genetic tests for RD on a cross-border basis. Building upon previous expert discussions and workshops, research was conducted under the EUCERD Joint Action by partner Helena Kääriäinen, which explored the volume of cross-border genetic testing for RD and highlighted some of the key challenges involved in the process. Following an expert workshop in December 2014, draft Recommendations were elaborated, with the aim of generating meaningful impact in this area.

They emphasise the need to:

  1. facilitate access to cross-border genetic testing, where appropriate
  2. collaborate across borders to assess the added-value of genetic testing
  3. share expertise and collaborate at the European level
  4. ensure reliable information on laboratories providing genetic testing for RD

More information: the Commission's report [PDF], Orphanews 

enerca 2014

The ENERCA Telemedicine platform facilitates remote diagnosis orientation of complex cases by building a bridge among health professionals in distant locations and experts in rare anaemias leading to a faster and more accurate diagnosis and consequently, to a better care of the patient.

The platform, led by Hôpital Erasme - Université Libre de Bruxelles and coordinated by Prof. Béatrice Gulbis, Dr. Françoise Neumann, Dr. Maria del Mar Mañú Pereira and Prof. Joan-Lluis Vives Corrons , aims to:

  1. Facilitate the access to diagnosis advice given by experts in rare anaemias in order to decrease the time needed for its achievement, resolve complex cases and reduce the number of patients remaining undiagnosed.
  2. Promote interprofessional consultation and sharing of knowledge through the exchange of clinical information resulting in the improvement of patient care.
  3. Foster research and education by providing the medical community with a tool that allows concentrate cases, pooling data, and establish algorithms for efficient diagnosis.
  4. Reduce the cost of and increase efficiency through shared health professional staffing or technology, and reduced travel times.

The e-ENERCA Telemedicine platform is dedicated to health professionals for sharing complex cases facilitating their diagnosis, however, since it is open to public in its first stage, patients can also use it under their own responsibility.

More information: ENERCA Telemedicine platform, e-ENERCA project

rarediseaseday 2016

29 February 2016 marks the ninth international Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities based on the slogan Join us in making the voice of rare diseases heard. The theme of this year's World Rare Disease Day "the voice of the patient" highlights that patients must express their needs for the change that will improve their lives, the lives of their families, as well as those who take care of them.

More information: Rare Disease Day 2016 


thalassaemia day 2016

8th of May marks the international thalassaemia day aiming to raise awareness of the disease. On this special day, every year, the Thalassaemia International Federation (TIF) focuses on a different theme that intervenes with the quality and appropriate treatment of patients and impacts their quality of life. This year's theme is "Access to Safe & Effective Drugs in Thalassaemia", highlighting the need to support policy decisions that safeguard health and reduce inequalities in the health field.

For more information please visit the TIF official website

irdirc logo

The International Rare Diseases Research Consortium (IRDiRC) has uploaded an enlightening report which includes extensive information on the major developments across the globe in the field of rare diseases. The content of this report will be useful for any stakeholder whether it is to support decisions of policy makers and research funders, or educate the rare diseases community at large of the achievements and of observed trends which shape the future of research and development for rare diseases.

The report has been compiled by means of a systematic survey of published articles, between July 2014 and June 2015, in scientific journals and press releases. It identifies several major policy initiatives that were taken during this period notably, the funding provided by the Canadian Institutes of Health Research and Genome Canada to study models and molecular mechanisms of rare diseases, the joint proposal of the EMA and the FDA on research for new Gaucher disease medication, among others. The report highlights the guidelines and recommendations that are likely to benefit rare disease research. The report also published the outcomes of previous major initiatives such as FORGE, Deciphering Developmental Disorders, FDA’s Orphan Products Grants Program and EMA’s adaptive licensing pilot project. The report also describes useful databases such as Linked2Safety, ClinRegs and ClinGen. It highlights trends that will significantly impact rare disease patients such as involving patients at the EMA for discussions on benefit/risk assessment, importance of patient reported outcomes, among others.

More information: IRDiRC State of Play report [PDF], Orphanews