IDefine Europe helps connect Kleefstra Syndrome communities

It is estimated that there are about 260,000 Kleefstra Syndrome patients worldwide, only 11,000 of which are in the United States. It’s a statistic underscoring the need for a global effort to develop a targeted treatment for KS.

IDefine Europe, Foundation for the Advanced Treatment of Rare Genetic Diseases – a nonprofit, non-government organization established in May 2022 – is leading the way in Europe.

Dr. Tanja Zdolsek Draksler of Slovenia was serving as IDefine’s international ambassador, but when not having a formal European organization behind her restricted involvement with the rare disease community there, she decided to establish the NGO.

“There are so many differences within Europe and the USA, and these are not only cultural differences, it is the whole setting,” said Tanja, whose daughter Ajda, 7, has KS. “Having more organizations across the world advocating for Kleefstra Syndrome and connecting parents and organizations is vital. It is essential that we take certain activities to a regional and continental level. On the other side, as Kleefstra Syndrome is rare, we also have to act globally, so being connected and working hand in hand is key.”

Tanja selected the IDefine Europe name because she wants to continue to act as a bridge between communities, and to leverage established links and activities.

“IDefine and our Kleefstra Syndrome community are incredibly connected, and we are leveraging that attribute to push our efforts forward in a cohesive fashion,” said Geoff Rhyne, IDefine CEO.

Tanja’s friend and fellow KS mom, Špela Fekonja, supported the establishment of IDefine Europe and serves as a board member. Drs. Tjitske Kleefstra and Arianne Bouman of Radboud University Medical Center in the Netherlands serve as collaborators.

Tanja is a research project manager in information technologies at the Jožef Stefan Institute (JSI) – the leading Slovenian scientific research institute specializing in natural sciences, life sciences and engineering. In order to capitalize on her knowledge, Tanja has IDefine Europe focused on technology, data and knowledge transfer, and research in rare diseases in general, in addition to doing patient advocacy.

“The biggest challenge is time – we just have so many ideas, but limited time and working resources to tackle it all,” said Tanja.

IDefine Europe has received a grant to host “Kleefstra Syndrome Scientific Conference 2023: Moving towards the uptake and use of artificial intelligence (AI) in research and clinical work.” It will be held on June 1^st and 2^nd in Ljubljana, Slovenia.

“It will bring together two groups of researchers, those working on Kleefstra Syndrome and researchers from the IT/digital health domain with the aim to build new research groups and new ideas within Kleefstra Syndrome research,” said Tanja. “Twenty-five researchers from Europe and Australia will present their work. It will be also streamed, so all parents across the globe can join and watch the conference.”