There are more than 7,000 rare diseases (80% of which are genetic) and new ones are being identified all the time. Rare diseases affect a total of more than 400 million people in the world (30 million people in the EU). That is why rare diseases are a global problem for which there is a high unmet need.
We are IDefine Europe, Foundation for the Advanced Treatment of Rare Genetic Diseases, an NGO based in Slovenia, Central Europe. The foundation is dedicated to advocacy and research activities of rare genetic diseases.
The field of rare diseases is very broad and encompasses a variety of disciplines. Only experienced rare disease experts know where to look for information. Access to data is critical to understanding rare diseases. Re-use of this data for research purposes can lead to important discoveries.
Data science & AI
Advocacy
Learning & training
Partnerships
Together we can gain new insights about (specific) rare diseases, building community and resources that lead to life-changing treatments.
Our initial focus is on Kleefstra syndrome,
a rare genetic condition.