The consultancy RareData EU has published a white paper on planning and developing real-world data (RWD) studies and registries for rare diseases. It provides comprehensive practical advice to professionals on topics such as common challenges...
A recent commentary published in the American Journal of Medical Genetics discusses the need to transition away from a “one disease at a time” model in newborn screening and drug development, and potential strategies for addressing this...
The non-profit organisation Global Genes has published their 2023 health equity report, addressing the specific challenges members of minority groups face within the rare disease community. It draws on a series of discussions which took...
A recent study published in the International Journal of Environmental Research and Public Health used machine learning to investigate and systematise existing knowledge on health emigration in the rare disease community. This is a niche issue whereby...
A study has been published in Singapore Medical Journal providing an overview of the existing treatment strategies for paediatric genetic diseases (PGDs), including recent advancements.
A new study published in Healthcare evaluates the factors associated with differences in treatment costs for orphan and non-orphan drugs in the United States. Recently, there has been growing concern about the affordability of orphan drugs (ODs)....
A new consensus paper published in the Orphanet Journal of Rare Diseases presents the results of a series of strategic discussions between a group of multidisciplinary experts.
The EMA has published their 2022 Human Medicines Highlights report, providing an overview of their activities throughout the course of the year. In the domain of rare diseases, 21 medicines had their orphan designation confirmed...
From 15-18 March 2023, both the 7th RE(ACT) Congress and the 5th IRDiRC Conference were held in Berlin, Germany as part of a joint event organised by the BLACKSWAN Foundation in collaboration with the International Rare Diseases...
On 7 March 2023, the new European Capacity Building for Patients (EUCAPA) project was announced as part of the EU4HEALTH initiative. A consortium made up of EURORDIS, the European Patients Forum, and the academic institution...
