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.

Active projects

Kleefstra syndrome caregiver reported insights (collaboration with Genida)
Rare diseases data observatory (collaboration with JSI-IRCAI)

Advocacy

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.

Partnerships

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!

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!

Research partner from Slovenia covering natural and technical sciences

Research partner covering AI technologies

Partner logo

Clinical and research partner from Netherlands, covering NDDs

Expertise center for neurodevelopmental disorders

Clinical and research partner from Netherlands, covering NDDs

Network of clinical experts

Caregiver-reported data registry for genetic forms of intellectual disability, autism and epilepsy

Umbrella organisation for RD in Europe

Rare disease community partner from USA, with the initial focus on Kleefstra syndrome

Partner in advocacy activities

Partner in advocacy activities

Centre for the technologies of gene and cell therapy