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
Founder and Board chair, Research and data lead, ERN ITHACA ePAG and patient board vice-chair
TEAM
ŠPELA FEKONJA
Board member, Community communications
MARTIN DRAKSLER, PhD
Board member
ALENKA GUČEK, PhD
Data visualisations
ANA FABJAN
Design and media, Open education
Assistant Professor NICOLETTA BALBO, PhD
Social sciences research
SCIENTIFIC ADVISORY BOARD
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
Radboud UMC, The Netherlands
GREGOR MOLEH, MD
Family medicine physician, Slovenia
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
Clinical and research partner from Netherlands, covering NDDs
Expertise center for neurodevelopmental disorders at Erasmus MC
Clinical and research partner from Netherlands, covering NDDs
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
