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Rare Disease Day 2024

Rare Disease Day 2024

Today (February 29th) marks Rare Disease Day, a globally coordinated occasion raising awareness for people living with rare diseases all around the world, as well as their families and carers.  

Rare diseases are categorized variably across different nations. For instance, in the United States, a condition is deemed rare if it impacts fewer than 200,000 individuals. In contrast, within the European Union, a rare disease is identified as one that affects less than one in every 2,000 people. As of 2024, there are approximately 300 million people worldwide living with one of the 7,000 identified rare diseases

People living with rare diseases face a multitude of challenges, including pain and chronic disability, lack of access to specialized (and affordable) healthcare, and social isolation.  

Today, we want to highlight the importance of scholarly research on the diagnosis, care and treatment of those battling rare diseases, while also reiterating our commitment to the promotion of the Sustainable Development Goals and progress on SDG3 on Good Health and Well-Being. Below, you will find a selection of research in those areas from our collection. 

Drug Repurposing Research from REPO4EU 

Drug Repurposing Research Collection from Drug Repurposing Central provides researchers with the latest insights in drug repurposing. Drug Repurposing Central is a publishing portal for researchers in drug repurposing, network medicine, precision healthcare and more, powered by ScienceOpen and funded by the Horizon Europe project REPO4EU.  

Check out the Drug Repurposing Research directly on the website of REPO4EU and explore topics related to rare diseases through some highlighted articles below: 

iDR24 conference 

We would also like to bring attention to iDR24, the first international drug repurposing conference, co-organised by REMEDi4ALL, Beacon, and MeRIT, which will be held 6-7 March 2024 in Barcelona. At this global event, key opinion leaders from both the research and patient communities, funders, regulators, and representatives from the private sector will participate to collectively advance innovative drug repurposing in Europe and beyond.   

The event will follow 3 topical paths in parallel: cancer, methodologies, and rare diseases. Go to the website of the conference to register and be sure to check out the poster abstracts on the Drug Repurposing Central here

Karger Publishers 

Karger Publishers, headquartered in Basel, Switzerland, is a globally active publishing house of worldwide renown in health sciences. Karger is committed to advancing research in the field by connecting scientists, clinicians and patients. Since 2020, handpicked articles by Karger have been featured in 11 topical collections on ScienceOpen, providing an invaluable digital resource for medical researchers and practitioners in areas including oncology, neurology, endocrinology, digital health and more. 

You can use the enhanced search and discovery filtering options on ScienceOpen, including sorting content by date, citations, and readership, and discovering related content from our ever-growing network of 92 million research records.  

Some of the most recent publications on rare diseases by Karger Publishers: 

JMIR Publications 

JMIR Publications is the leading open access digital health research publisher with a long-standing commitment to advancing digital health research and progressing open science. The JMIR Publications collection on ScienceOpen highlights the breadth and quality of digital health research covered in the JMIR portfolio, including research from the Journal of Medical Internet Research, JMIR Medical Informatics, JMIR Mental Health, JMIR Cancer, and other publications.  

Read some of the latest research from JMIR Publications on e-health and rare diseases: 


Owned by the Society for Endocrinology, Bioscientifica collaborates with leading biomedical societies to publish and develop journals that have high impact and a wide reach, strengthening biomedical communities and advancing science and health. Since 2019, ScienceOpen and Bioscientifica have collaborated on integrating open-access articles from different Bioscientifica endocrinology and reproduction journals into the ScienceOpen research discovery environment in the form of several featured collections. 

Below is a selection of research from Bioscientifica journals on rare diseases: 

#RareDiseaseDay online 

To find out more about how you can get involved and support patients with rare diseases and their loved ones, read more on the official website of Rare Disease Day. 

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