Data is the key.
To understand rare diseases.
To develop life-changing treatments and cures.
To empower people.
Data science & AI
We connect different areas of science and healthcare for rare disease research. We focus on technology, data and knowledge transfer to find new discoveries, treatments and cures. We emphasise the importance of data and new technologies (especially data science and AI) that can help us understand the complexities of rare diseases. Knowledge transfer from research to clinicians, patients and parents is at the forefront of our work.
Rare diseases data observatory (collaboration with JSI-IRCAI)
One of the goals is to raise awareness of rare genetic diseases and provide support to patients. The focus is on neurodevelopmental disorders (NDDs) due to rare monogenic diseases. At the European level, IDefine is a member of Eurordis and active in the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA). Founder Tanja Zdolšek Draksler is a member of ERN ITHACA ePAG (European Patient Advocacy Group). At the national level (Slovenia), IDefine Europe advocates for rare NDDs and works closely with SATB2 Europe and the CTNNB1 Foundation.
Learning & training
A variety of learning and training materials already exist, but these materials are available in different languages, types, and modalities. We set out to gather relevant sources and create a comprehensive e-learning and training program for rare diseases.
We work closely with researchers and clinicians. Partnerships and collaborations form the basis of our work and we are constantly seeking new ways to continue and expand our work. You are welcome to join!