One year to cure is the goal shared by parents of children with the CTNNB1 Syndrome rare disease. Out of approximately 400 known cases worldwide, 82 families with children gathered at the conference in Ljubljana last week, where researchers and clinicians lectured, with a strong participation of CTGCT representatives. The President of Slovenia, dr. Nataša Pirc Musar honoured the attendees and organisers with her welcome speech.
The CTNNB1 Foundation, founded by Špela and Samo Mirošević, parents of Urban, their son with this rare disease, held its second international conference in Ljubljana between June 14 and 16 (link). In addition to the conference, the purpose of the cooperation of families with children was also their inclusion in the natural history study led by dr. Damjan Osredkar.
Špela Mirošević, president of the Foundation, in her address highlighted the three-year journey since the foundation of the Foundation, she presented the plan for the next 12 months with the determination of all involved to do everything necessary reach the first clinical study using the new genetic medicine for the first children. In her lecture, she urged parents to raise another €1.2 million to fulfill the plans and encouraged researchers, scientists and partners to achieve the timeline.
CTGCT and the National Institute of Chemistry cooperated in several ways, in addition to sponsoring the conference, our representatives made the following presentations: Dr. Mojca Benčina – Accelerating Patient Access to Biomedical Advancements in Slovenia, dr. Duško Lainšček – Evaluation of the Efficacy of CTNNB1 AAV9 Therapy on a Mouse Model, dr. Petra Sušjan and dr. Matea Maruna – RNA Centered Strategies for Upregulation of beta-catenin in CTNNB1 Syndrome. The first day of the conference was moderated by Gregor Cuzak.
The conference is a continuation and culmination of the extraordinary path led by the parents of children with rare diseases, the role of various experts and supporters who got involved some time ago and practically all of them remain involved, and new ones are always entering the project, but the feeling is equally extraordinary is that the project is now at a point where the goal, a cure for children, is in sight. Some questions remain before the foundation and its leaders and before the entire community, the answers to which are coming. There are also challenges, perhaps the biggest of which is whether the drug will be safe and whether it will provide the kind of improvement that science has already made possible, for example in SMA, a disease that once meant early death for those affected, but today it is not only possible to preserve children’s lives, but also offers them the opportunity to connect with their peers.
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