Report of the 2023 Scientific Conference on Kleefstra Syndrome

With great honor, I participated in the scientific conference on Kleefstra syndrome, an event that gathered dozens of leading physicians and researchers from various countries such as the Netherlands, Slovenia, Croatia, Spain, France, Australia, Italy, Hungary, Lithuania, and the United States.

The conference provided a unique opportunity for the presentation of new research data and the discussion of innovative therapeutic approaches for this rare genetic syndrome.

In the photos from the conference, visible are, Prof. Tjitske Kleefstra, the geneticist who gave her name to the syndrome, and the Tanja Zdolsek, mother of a child with Kleefstra syndrome and founder of the Define Europe, an NGO that promotes actions and research to improve the quality of life of individuals with Kleefstra syndrome.

The multinational participation and the variety of topics covered highlighted the importance of international cooperation for progress in understanding and treating the syndrome. At the same time, the decisive role of family support and organizations such as IDefine Europe in creating a supportive community and promoting research was emphasized.

For those interested, the conference videos are available at VideoLectures.NET as well as on her channel Define Europe in YouTube. There you will also find my presentation on the analysis of electroencephalographic data using machine learning methods, entitled “EEG Data Analysis and AI/ML methods for brain conditions”.

This experience was particularly inspiring and reminded us of the power of scientific and social cooperation in addressing rare genetic syndromes.