IRDiRC Goals 2017-2027: New rare disease research goals for the next decade

IRDiRC Goals 2017-2027:  New rare disease research goals for the next decade
The International Rare Diseases Research Consortium (IRDiRC) is proud to announce the new vision and goals for 2017-2027. IRDiRC, officially launched in 2011, was originally conceived with two main goals: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. The last six years ha [...]

Marketing of unproven stem cell-based interventions: A call to action.

Marketing of unproven stem cell-based interventions: A call to action.
In an article published by Sipp D et al., in Science Translational Medicine, 15 experts around the world demanded a more stringent regulation to protect vulnerable patients from unproven and dangerous stem cell-based treatment. © Inserm/Depardieu, Michel The growth of the industry engaged in direct-to-consumer online marketing of stem cell in [...]

RD-Action publishes guidelines for implementation of the codification of rare diseases in health information systems

RD-Action publishes guidelines for implementation of the codification of rare diseases in health information systems
The under-representation of rare diseases (RD) in coding systems makes tracing RD patients’ pathways within healthcare systems a difficult task. This issue is crucial as it affects the possibility of estimating the global number of persons living with RD and their access to healthcare services. In order to tackle this issue, the Orphanet has [...]

Involving patients in discussions on benefits and risks of medicines

Involving patients in discussions on benefits and risks of medicines
The European Medicines Agency (EMA) has published a final report on the experience gained during its pilot project to involve patients directly in the assessment of the benefits and risks of medicines in its Committee for Medicinal Products for Human Use (CHMP). During the pilot, which ran from September 2014 to December 2016, patients partic [...]

An analysis of orphan designations and authorizations in Europe and United States

An analysis of orphan designations and authorizations in Europe and United States
An article published by Giannuzzi V. et al, in Orphanet Jounal of Rare Diseases, analysed the status of orphan drugs designation that have not yet received a marketing authorisation or already marketed for patients affected by rare diseases in both the European Union (EU) and the United States (US). For each drug, the authors extracted data s [...]

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
An article by Boycott et al. in the American Journal of Human Genetics details the current and future bottlenecks to gene discovery and suggests strategies for enabling progress in this regard. © Inserm/Latron, Patrice The application of whole genome sequencing (WGS) and whole exome sequencing (WES) has increased the rate of discovery per yea [...]