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An article published in the Journal of Community Genetics analysed the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. In this article, the authors aimed to determine, across the EU countries, the staffing levels of clinical genetic laboratories of EU countries as well as their preparedness to be a European Reference Centre, success in obtaining rare disease research funding and contribution of researchers in conferences.

In 2011, the cross-border patients’ rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. The process of designating EU centres of expertise in rare diseases, which involves assessing the staffing of clinical genetic centres, is being implemented to allow centres to enter ERNs. According to the authors a wide disparity of staffing levels in clinical genetic services, rare disease research funding and communication of research work is observed across the EU countries that they analysed. The authors observed a need to ensure that the inequity gap that already exists does not widen with the development of ERNs.

More information: PubMed article, Orphanews

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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 

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

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 

 

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