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. 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.
One of the goals is to raise awareness of rare diseases and provide support to patients/caregivers. The focus is on monogenic neurodevelopmental disorders (NDDs).
NATIONAL ADVOCACY FOR RARE DISEASES
Focus on rare neurodevelopmental disorders
Collaboration with SATB2 EUROPE, CTNNB1 foundation and others
At the national level (Slovenia), IDefine Europe advocates for rare NDDs and works closely with SATB2 Europe and the CTNNB1 Foundation. IDefine Europe is also one of the supporters of Centre of Excellence for the Technologies of Gene and Cell Therapy established from the National Institute of Chemistry, Slovenia. IDefine Europe is also a member of the Patient organisations association of Slovenia.
EUROPEAN ADVOCACY FOR RARE DISEASES
Representing rare neurodevelopmental disorders with specific focus on Kleefstra syndrome
Member of EURORDIS
At the European level, IDefine is a member of Eurordis (umbrella organisation for rare diseases) and active in the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA). Founder Tanja Zdolšek Draksler is also an ERN ITHACA ePAG (member of the European Patient Advocacy Group).
Learn & train
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.