In a step towards fostering collaboration in the realm of rare diseases, the Center for Technologies of Gene and Cell Therapy (CTGCT), at the Kemijski Inštitut, welcomed on September 19, 2024 Anne Hugon, project manager for the European Reference Network ITHACA, and Erika Stariha, president and co-founder of SATB2 Europe. They brought their expertise and vision to our institute, paving the way for future partnerships.
Showcasing Innovation and Ambition
The CTGCT team had the opportunity to present our mission: translating the innovative research on the institute into life-changing therapies for rare diseases and previously untreatable forms of cancer. We shared our ambitious plans for expansion, including the construction of specialized laboratories and our strategy to attract top-tier talent in the field.
Our presentation highlighted current partnerships and ongoing efforts to connect with national and international institutions. We emphasized the critical importance of involving clinicians in our projects and raising awareness among patients, underscoring our commitment to a holistic approach in addressing these complex medical challenges.
Uniting Patient Organizations
Our Gregor Cuzak, translational medicine manager and general secretary of ZOPS, provided insights into the ZOPS – Patient Organisations Association of Slovenia, a coalition that has successfully united the majority of Slovenia’s patient organizations. Of particular interest was the recent establishment of a dedicated chapter for rare diseases within ZOPS.
Erika Stariha, leveraging her role as president of SATB2 Europe, joined us in explaining how the integration of various associations and their connection with clinicians is making a tangible difference in the lives of patients across Slovenia.
ERN-ITHACA: A Network of Excellence
Anne Hugon’s presentation on the European Reference Network for Intellectual Disability, TeleHealth, Autism and Congenital Anomalies (ERN-ITHACA) was particularly enlightening. We gained valuable insights into the ecosystem of 24 European Reference Networks, which bring together patients, researchers, clinicians, regulators, and policymakers.
ERN-ITHACA specializes in rare malformation syndromes, intellectual and other neurodevelopmental disorders of genetic, genomic, chromosomal, or environmental origin – both diagnosed and undiagnosed. Hugon emphasized the network’s crucial role in providing infrastructure for diagnosis, evidence-based management, and secure patient data collection. Through webinars, workshops, and guidelines, ERN-ITHACA disseminates knowledge and improves coordination of patient care.
Notably, ERN-ITHACA’s primary objective aligns closely with that of CTGCT: working towards the development of diagnostic tests and future therapies for these challenging conditions.
Looking Ahead: Collaboration and Innovation
The visit concluded with a productive discussion on strategies to engage clinicians in innovative projects aimed at developing therapies for rare diseases. We reached a consensus on the paramount importance of fostering connections and providing education to ensure that affected patients are swiftly directed to appropriate clinical expertise.
This meeting helps in our ongoing efforts to build a robust, collaborative network dedicated to advancing gene and cell therapies for rare diseases and cancer. By bringing together diverse stakeholders – from patient advocates to cutting-edge researchers – we are laying the groundwork for transformative breakthroughs in medical science.
As we move forward, the Center for Technologies of Gene and Cell Therapy remains committed to pushing the boundaries of scientific discovery, always with the ultimate goal of improving patient outcomes and quality of life.