Posts by Marlène Jagut

Marketing of unproven stem cell-based...

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. The growth of the industry engaged in direct-to-consumer online marketing of stem cell interventions has become impossible to ignore. The growth of […]

RD-Action publishes guidelines for im...

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 classified […]

Involving patients in discussions on ...

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 participated in discussions […]

An analysis of orphan designations an...

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 […]

International Cooperation to Enable t...

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. The application of whole genome sequencing (WGS) and whole exome sequencing (WES) has increased the rate of discovery per year of new genes responsible for rare […]

The importance of international colla...

The importance of international collaboration for rare diseases research – a European perspective

An article published by Julkowska, Austin et al., in Gene Therapy describes the role and impact of strengthened cooperation not only in research in rare diseases (RD), but also at regulatory, funding and health care levels, not only in Europe but globally. For more than two decades, the EU has funded cross-border research in RD through its […]