IDefine Europe is a renowned brand and foundation dedicated to the advanced treatment of rare genetic diseases. With over 7,000 known rare diseases affecting more than 400 million individuals worldwide (including 30 million in the EU), our NGO is committed to making a significant impact. Based in Slovenia, Central Europe, our primary focus lies in advocacy and research activities related to rare diseases.

The field of rare diseases is incredibly complex, involving various disciplines, which is why we undertake an array of activities. Data plays a vital role in understanding and researching rare diseases, and we strive to provide access to relevant and diverse data. By reusing and analyzing this data, we can uncover crucial insights and make groundbreaking discoveries. Together, we aim to build a supportive community and valuable resources that ultimately lead to improved care and life-changing treatments.

We are currently prioritizing our efforts on Kleefstra syndrome, an uncommon neurodevelopmental disorder. Join us in our mission as we work towards a better future for those affected by rare genetic diseases. Together, we can make a difference.