Orphanet, the reference portal for rare diseases and orphan drugs with partnerships in 40 countries, has published its annual activity report for the year 2015. It details the activities of Orphanet, while stressing the highlights of the past year, including updates of the Orphanet databases, tools and documents, improved transparency and traceability and upgraded international positioning.

More information: Orphanet Activity report [PDF], Orphanews

Patients undoubtedly constitute one of the main cornerstones of the future European Reference Networks (ERNs), thus the involvement of patients organizations must be assured from the beginning in order to guarantee their pivotal role within the networks and, therefore, increasing the patients’ empowerment.

For this reason, EURORDIS has developed European Patient Advocacy Group (ePAG) for each ERN disease grouping. ePAGs bring together elected patient representatives and affiliated organisations who will ensure that the patient voice is heard throughout the ERN decision-making processes and a democratic process of patient representation.

The newly elected ePAG patient representatives have now been announced. In the context of rare haematological elected ePAG Patient Representatives are:

1. Amanda Bok, European Haemophilia Consortium (EHC)
2. Jan Geissler, Leukemia Patient Advocates Foundation
3. Sophie Wintrich, MDS UK Patient Support Group (and MDS Alliance)
4. Angelo Loris Brunetta, Associazione Ligure Thalassemici Onlus
5. Ananda Plate, Myeloma Patients Europe

More information: EURORDIS, ENERCA News, list of ePAG representatives [PDF]

ThalCare is a web tool to facilitate the critical care and chronic management for thalassaemia patients in order to improve the quality of life of people suffering from these blood disorders and assist medical and nursing teams, enabling the centers to collaborate with multidisciplinary experts on-line.

The tool provides information and treatment assistance by tracking transfusions, chelation, vaccination and other key related issues. Moreover, ThalCare enables prevention of the disorder by cascade screening methodology and assesses the risk category for transplants that the child belongs to indicating suitability for bone marrow transplant.

ThalSense is an intelligence engine for the generation of alerts, suggestions and indications that serves for the management of the patients. Since this tool gathers data, generates reports and indicators on the progress of each patient and of the centres as a whole, ThalSense also serves as guidelines for local doctors.

On the other hand, ThalCare patient’s mobile app assures the empowerment of patients by enabling the access to medical records, scheduling medical visits, seeking help when emergency and having contact with other affected patients.

More information: ThalCare website, ENERCA News

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