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

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

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 


rd action

RD-ACTION is a new Joint Action consisting of the member states of the European Union for rare diseases, following the two previous Joint Actions - Orphanet Joint Action and EUCERD -, and represents renewed support of the European Commission (EC) to rare diseases, through its Directorate General for Health (DG SANTE).

RD-ACTION has three main objectives:

  1. to contribute to the implementation, by member states, the recommendations of the EC Panel in relation to policies on these diseases,
  2. to support the development of Orphanet and make it sustainable,
  3. to help Member States to introduce the ORPHA code in their health systems to make rare diseases visible.

With a global budget of €8,344,079, this work will last three years (until June 2018), following the logic of coherence and continuity vis-à-vis the previous actions, but aims to go further in terms of concrete implementation and consolidation policies.

More information: European Commission press release, Orphanews

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