“Matching” consent to purpose: The example of Matchmaker Exchange

“Matching” consent to purpose: The example of Matchmaker Exchange
An article by Dyke et al. in Human Mutation discusses consent considerations and the resulting consent guidelines established by the Matchmaker Exchange (MME). The Matchmaker Exchange (MME) was created to aid in the discovery of the causes of rare diseases through sharing of data from exome and genome sequencing performed in research and clin [...]

Huntington’s Disease: Gene Editing Shows Promise in Mouse Studies

Huntington’s Disease: Gene Editing Shows Promise in Mouse Studies
Huntington’s disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain as well as other areas. Symptoms of the disease, which get progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgme [...]

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 [...]