We are committed.

To improve the lives of children with rare diseases (special focus on rare neurodevelopmental disorders).

To the overall development of the field of rare diseases at national, regional, European and global level.

We are IDefine Europe.

NGO founded in Slovenia by parents of children with rare diseases. We combine the lived experience and wealth of information about rare diseases that parents and caregivers of children with rare diseases have with various research disciplines to address the complex problem of rare diseases.

BOARD

TANJA ZDOLŠEK DRAKSLER, PhD

TANJA ZDOLŠEK DRAKSLER, PhD

Founder and Board chair, Research and data lead, ERN ITHACA ePAG and patient board vice-chair

TEAM

ŠPELA FEKONJA

ŠPELA FEKONJA

Board member, Community communications

MARTIN DRAKSLER, PhD

MARTIN DRAKSLER, PhD

Board member

ALENKA GUČEK, PhD

ALENKA GUČEK, PhD

Data visualisations

ANA FABJAN

ANA FABJAN

Design and media, Open education

Assistant Professor NICOLETTA BALBO, PhD

Assistant Professor NICOLETTA BALBO, PhD

Social sciences research

SCIENTIFIC ADVISORY BOARD

Professor TJITSKE KLEEFSTRA, PhD, MD

Professor TJITSKE KLEEFSTRA, PhD, MD

Erasmus MC and Center of Excellence for Neuropsychiatry at Vincent van Gogh, The Netherlands and ERN ITHACA board member

ARIANNE BOUMAN, MD, PhD candidate in clinical genetics

ARIANNE BOUMAN, MD, PhD candidate in clinical genetics

Radboud UMC, The Netherlands

GREGOR MOLEH, MD

GREGOR MOLEH, MD

Family medicine physician, Slovenia

ERIK NOVAK, PhD candidate in AI/ML

ERIK NOVAK, PhD candidate in AI/ML

Researcher in Artificial Intelligence, Jožef Stefan Insitute, Slovenia

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 at Erasmus MC

Clinical and research partner from Netherlands, covering NDDs

ERN Ithaca

European reference network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders (network of clinical experts)

Research into speech and language skills (Australia)

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

Umbrella organization for rare diseases in Europe

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

Partner in advocacy activities

Partner in advocacy activities

Centre for the technologies of gene and cell therapy (National Institute of Chemistry, Slovenia)