http://www.ctnnb1-foundation.org/

CTNNB1 Foundation, Dalmatinova Ulica 5, Ljubljana (2026)

25/05/2026

𝗪𝗵𝗮𝘁 𝗰𝗮𝗻 𝗽𝗮𝘁𝗶𝗲𝗻𝘁-𝗱𝗲𝗿𝗶𝘃𝗲𝗱 𝗯𝗿𝗮𝗶𝗻 𝗺𝗼𝗱𝗲𝗹𝘀 𝗿𝗲𝘃𝗲𝗮𝗹 𝗮𝗯𝗼𝘂𝘁 𝗴𝗲𝗻𝗲 𝘁𝗵𝗲𝗿𝗮𝗽𝘆?

We’re excited to welcome Dr. Florencia Haase as a speaker at the 4th International CTNNB1 Syndrome Conference.

Dr. Haase is a neuroscientist and gene therapy researcher at the Children’s Medical Research Institute in Australia. Her work focuses on developing and evaluating AAV-based therapies for rare neurodevelopmental disorders, using advanced approaches such as patient-derived cells, cortical organoids, and transcriptomic profiling. She also supports the CTNNB1 Foundation on regulatory and translational aspects of therapy development.

🧠 Presentation: 𝗧𝗿𝗮𝗻𝘀𝗰𝗿𝗶𝗽𝘁𝗼𝗺𝗶𝗰 𝗣𝗿𝗼𝗳𝗶𝗹𝗶𝗻𝗴 𝗼𝗳 𝗔𝗔𝗩𝟵-𝗖𝗧𝗡𝗡𝗕𝟭 (𝗨𝗥𝗕𝗔𝗚𝗘𝗡) 𝗶𝗻 𝗣𝗮𝘁𝗶𝗲𝗻𝘁-𝗗𝗲𝗿𝗶𝘃𝗲𝗱 𝗢𝗿𝗴𝗮𝗻𝗼𝗶𝗱𝘀

She will share how cutting-edge cellular models can help us better understand disease mechanisms and evaluate the effects of gene therapy at a molecular level.
Join us in Barcelona to explore how innovative research models are accelerating progress toward treatment.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open for both in-person and online attendance: https://ctnnb1-foundation.org/conference-2026/

Jeans for Genes Australia

22/05/2026

𝗪𝗵𝗮𝘁 𝗰𝗮𝗻 𝗳𝗮𝗰𝗶𝗮𝗹 𝗳𝗲𝗮𝘁𝘂𝗿𝗲𝘀 𝗮𝗻𝗱 𝗻𝗲𝘂𝗿𝗼𝗱𝗲𝘃𝗲𝗹𝗼𝗽𝗺𝗲𝗻𝘁 𝘁𝗲𝗹𝗹 𝘂𝘀 𝗮𝗯𝗼𝘂𝘁 𝗖𝗧𝗡𝗡𝗕𝟭 𝘀𝘆𝗻𝗱𝗿𝗼𝗺𝗲?

We’re pleased to welcome Dr. Neus Martínez Abadías from the University of Barcelona as a speaker at the 4th International CTNNB1 Syndrome Conference.

Dr. Martínez Abadías is an Associate Professor at the Faculty of Biology, where her research combines morphometrics, 3D imaging, and genetics to better understand the complexity of rare and neurodevelopmental disorders. Her work focuses on identifying biomarkers that can improve diagnosis and prognosis.

🧠 Presentation: 𝗖𝗹𝗶𝗻𝗶𝗰𝗮𝗹, 𝗣𝘀𝘆𝗰𝗵𝗼𝗹𝗼𝗴𝗶𝗰𝗮𝗹 𝗮𝗻𝗱 𝗡𝗲𝘂𝗿𝗼𝗽𝘀𝘆𝗰𝗵𝗼𝗹𝗼𝗴𝗶𝗰𝗮𝗹 𝗧𝗿𝗮𝗷𝗲𝗰𝘁𝗼𝗿𝗶𝗲𝘀 𝗮𝗻𝗱 𝗙𝗮𝗰𝗶𝗮𝗹 𝗠𝗼𝗿𝗽𝗵𝗼𝗹𝗼𝗴𝘆 𝗶𝗻 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲

She will share insights into how detailed phenotyping and advanced imaging can help uncover patterns in CTNNB1 syndrome and support earlier and more accurate diagnosis.

Join us in Barcelona to explore how innovative approaches are advancing our understanding of rare diseases.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open for both in-person and online attendance: https://ctnnb1-foundation.org/conference-2026/

Universitat de Barcelona

20/05/2026

𝗦𝗼𝗺𝗲𝘁𝗶𝗺𝗲𝘀 𝘁𝗵𝗲 𝗺𝗼𝘀𝘁 𝗽𝗼𝘄𝗲𝗿𝗳𝘂𝗹 𝘃𝗼𝗶𝗰𝗲𝘀 𝗶𝗻 𝗿𝗮𝗿𝗲 𝗱𝗶𝘀𝗲𝗮𝘀𝗲 𝗮𝗿𝗲 𝘁𝗵𝗲 𝗳𝗮𝗺𝗶𝗹𝗶𝗲𝘀 𝗹𝗶𝘃𝗶𝗻𝗴 𝗶𝘁 𝗲𝘃𝗲𝗿𝘆 𝗱𝗮𝘆.

We’re honored to welcome Effie Parks as a speaker at the 4th International CTNNB1 Syndrome Conference.

Effie is the creator and host of the award-winning Once Upon A Gene podcast and Director of Partnerships at Ctnnb1 Connect & Cure. Following her son Ford’s diagnosis with CTNNB1 syndrome, she transformed her family’s journey into a mission of advocacy, storytelling, and connection within the rare disease community.
Through hundreds of conversations with families, clinicians, researchers, and advocates, Effie has become a powerful voice for rare disease awareness, empathy, and hope.

🧠 Presentation: 𝗟𝗶𝘃𝗶𝗻𝗴 𝘄𝗶𝘁𝗵 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲: 𝗙𝗮𝗺𝗶𝗹𝘆 𝗣𝗲𝗿𝘀𝗽𝗲𝗰𝘁𝗶𝘃𝗲𝘀 𝗼𝗻 𝗖𝗮𝗿𝗲 𝗮𝗻𝗱 𝗛𝗼𝗽𝗲

Effie will share reflections from the family perspective — the challenges, resilience, and hope that shape life with CTNNB1 syndrome, and why community and connection matter so deeply.

Join us in Barcelona for meaningful conversations that bring together science, care, and lived experience.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open: https://ctnnb1-foundation.org/conference-2026/

18/05/2026

𝗧𝗵𝗲 𝗺𝗼𝗿𝗲 𝘄𝗲 𝘂𝗻𝗱𝗲𝗿𝘀𝘁𝗮𝗻𝗱 𝗖𝗧𝗡𝗡𝗕𝟭, 𝘁𝗵𝗲 𝗰𝗹𝗼𝘀𝗲𝗿 𝘄𝗲 𝗴𝗲𝘁 𝘁𝗼 𝗯𝗲𝘁𝘁𝗲𝗿 𝗰𝗮𝗿𝗲 𝗮𝗻𝗱 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁𝘀.

We’re excited to welcome Dr. Eline Chauvet-Piat as a speaker at the 𝟰𝘁𝗵 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗖𝗼𝗻𝗳𝗲𝗿𝗲𝗻𝗰𝗲.

Dr. Eline Chauvet‑Piat is a French physician trained in Switzerland, specializing in pediatric neurology at the Geneva University Hospitals with Prof. Christian Korff. She is currently completing a clinical and research fellowship at CHU de Montpellier under Prof. Agathe Roubertie, with a particular focus on CTNNB1 syndrome.

🧠 Presentation: 𝗖𝗧𝗡𝗡𝗕𝟭 𝗡𝗮𝘁𝘂𝗿𝗮𝗹 𝗛𝗶𝘀𝘁𝗼𝗿𝘆 𝗮𝗻𝗱 𝗔𝗔𝗗𝗖 𝗚𝗲𝗻𝗲 𝗧𝗵𝗲𝗿𝗮𝗽𝘆 𝗘𝘅𝗽𝗲𝗿𝗶𝗲𝗻𝗰𝗲: 𝗔 𝗖𝗼𝗻𝘁𝗿𝗶𝗯𝘂𝘁𝗶𝗼𝗻 𝗳𝗿𝗼𝗺 𝗙𝗿𝗮𝗻𝗰𝗲

She will share insights from her clinical and research work, including experience with AADC gene therapy and what it can teach us for CTNNB1.

Come join us in Barcelona and connect with a community working together to move things forward.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open: https://ctnnb1-foundation.org/conference-2026/

15/05/2026

𝗪𝗵𝗮𝘁 𝗶𝗳 𝘂𝗻𝗱𝗲𝗿𝘀𝘁𝗮𝗻𝗱𝗶𝗻𝗴 𝗼𝗻𝗲 𝗽𝗮𝘁𝗵𝘄𝗮𝘆 𝗰𝗼𝘂𝗹𝗱 𝘂𝗻𝗹𝗼𝗰𝗸 𝗺𝘂𝗹𝘁𝗶𝗽𝗹𝗲 𝗻𝗲𝘂𝗿𝗼𝗱𝗲𝘃𝗲𝗹𝗼𝗽𝗺𝗲𝗻𝘁𝗮𝗹 𝗱𝗶𝘀𝗼𝗿𝗱𝗲𝗿𝘀?

We’re excited to welcome Dr. Claudio Cantù as a speaker at the 𝟰𝘁𝗵 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗖𝗼𝗻𝗳𝗲𝗿𝗲𝗻𝗰𝗲.

Dr. Cantù is a leading scientist studying how cells regulate gene expression in response to external signals, with a strong focus on WNT/β-catenin signaling. After training in Italy and at the University of Oxford, he continued his research in developmental genetics at the University of Zurich. He now leads his own laboratory at Linköping University in Sweden, where his multidisciplinary team explores the intersection of embryology, genomics, and disease biology.

🧠 Presentation: 𝗗𝗶𝘀𝗰𝗼𝘃𝗲𝗿𝗶𝗻𝗴 𝗧𝗵𝗲 𝗪𝗡𝗧/β-𝗖𝗮𝘁𝗲𝗻𝗶𝗻 𝗦𝗶𝗴𝗻𝗮𝗹𝗹𝗶𝗻𝗴 𝗠𝗲𝗰𝗵𝗮𝗻𝗶𝘀𝗺𝘀 𝗶𝗻 𝗗𝗲𝘃𝗲𝗹𝗼𝗽𝗺𝗲𝗻𝘁 𝗮𝗻𝗱 𝗗𝗶𝘀𝗲𝗮𝘀𝗲

Dr. Cantù will share insights into one of the key biological pathways underlying CTNNB1 syndrome and its broader implications for neurodevelopmental disorders.

Join us in Barcelona to hear from experts advancing the science behind CTNNB1.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open: https://ctnnb1-foundation.org/conference-2026/

Linköpings universitet

13/05/2026

𝗕𝗲𝗵𝗶𝗻𝗱 𝗲𝘃𝗲𝗿𝘆 𝗰𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝘁𝗿𝗶𝗮𝗹 𝗶𝘀 𝗮 𝗳𝗮𝗺𝗶𝗹𝘆 𝗺𝗮𝗸𝗶𝗻𝗴 𝗮 𝗯𝗿𝗮𝘃𝗲 𝗱𝗲𝗰𝗶𝘀𝗶𝗼𝗻.

We’re honored to welcome Bruno Ramalho as a speaker at the 𝟰𝘁𝗵 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗖𝗼𝗻𝗳𝗲𝗿𝗲𝗻𝗰𝗲.

Coming from Porto, Portugal, Bruno Ramalho is a software developer and a father to a little girl named Mafalda, who was diagnosed with CTNNB1 syndrome in 2019. Since then, he has become a key part of the CTNNB1 community — supporting families, managing technical initiatives for the CTNNB1 Foundation and CTNNB1 Connect & Cure, and helping build tools like the CTNNB1 chatbot and mobile app.

🧠 Presentation: 𝗘𝗻𝗿𝗼𝗹𝗹𝗶𝗻𝗴 𝗠𝘆 𝗖𝗵𝗶𝗹𝗱 𝗶𝗻 𝗮 𝗖𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝗧𝗿𝗶𝗮𝗹: 𝗧𝗵𝗲 𝗚𝗔𝗜𝗡-𝗖𝗧𝗡𝗡𝗕𝟭 𝗘𝘅𝗽𝗲𝗿𝗶𝗲𝗻𝗰𝗲

Bruno will share his personal journey of enrolling his child in a clinical trial — offering an honest and valuable perspective for other families navigating similar decisions.

Join us in Barcelona to hear directly from those at the heart of this journey.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open: https://ctnnb1-foundation.org/conference/

Ctnnb1 Connect & Cure

11/05/2026

𝗔 𝗵𝗶𝘀𝘁𝗼𝗿𝗶𝗰 𝘀𝘁𝗲𝗽 𝗳𝗼𝗿𝘄𝗮𝗿𝗱 — 𝗳𝗿𝗼𝗺 𝗿𝗲𝘀𝗲𝗮𝗿𝗰𝗵 𝘁𝗼 𝘁𝗵𝗲 𝗳𝗶𝗿𝘀𝘁 𝗰𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝘁𝗿𝗶𝗮𝗹 𝗶𝗻 𝗖𝗧𝗡𝗡𝗕𝟭.

We are honored to welcome Prof. Damjan Osredkar, MD, PhD as a speaker at the 𝟰𝘁𝗵 𝗜𝗻𝘁𝗲𝗿𝗻𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲 𝗖𝗼𝗻𝗳𝗲𝗿𝗲𝗻𝗰𝗲.

Prof. Osredkar is the Head of the Pediatric Neurology Department at the University Children’s Hospital Ljubljana and the clinical lead of the GAIN-CTNNB1 trial — the first clinical trial of gene therapy for CTNNB1 syndrome.

🧠 Presentation: 𝗣𝗿𝗲𝗹𝗶𝗺𝗶𝗻𝗮𝗿𝘆 𝗥𝗲𝘀𝘂𝗹𝘁𝘀 𝗳𝗿𝗼𝗺 𝗚𝗔𝗜𝗡-𝗖𝗧𝗡𝗡𝗕𝟭: 𝗙𝗶𝗿𝘀𝘁 𝗖𝗹𝗶𝗻𝗶𝗰𝗮𝗹 𝗧𝗿𝗶𝗮𝗹 𝗶𝗻 𝗖𝗧𝗡𝗡𝗕𝟭 𝗦𝘆𝗻𝗱𝗿𝗼𝗺𝗲

This landmark presentation will share the first clinical insights from a pioneering Phase I/II study evaluating Urbagen, an AAV9-based gene therapy designed to restore β-catenin expression in the brain. The trial represents a major step toward disease-modifying treatment, moving beyond symptom management to targeting the underlying cause of CTNNB1 syndrome.

Join us in Barcelona to hear firsthand about this critical milestone in the journey toward gene therapy for CTNNB1.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open for both in-person and online attendance: https://ctnnb1-foundation.org/conference-2026/

UKC Ljubljana

08/05/2026

𝗙𝗿𝗼𝗺 𝗯𝗿𝗲𝗮𝗸𝘁𝗵𝗿𝗼𝘂𝗴𝗵 𝘀𝗰𝗶𝗲𝗻𝗰𝗲 𝘁𝗼 𝗿𝗲𝗮𝗹 𝘁𝗿𝗲𝗮𝘁𝗺𝗲𝗻𝘁𝘀 — 𝗵𝗼𝘄 𝗱𝗶𝗱 𝗔𝗔𝗩 𝗴𝗲𝗻𝗲 𝘁𝗵𝗲𝗿𝗮𝗽𝘆 𝗴𝗲𝘁 𝗵𝗲𝗿𝗲?

We’re excited to welcome Prof. Leszek Lisowski, PhD, MBA and Dr. Andrea Pérez Iturralde, PhD as speakers at the 4th International CTNNB1 Syndrome Conference.

Prof. Lisowski is a globally recognized expert in AAV vectorology with over 20 years of experience in gene therapy development and translation. He leads the Translational Vectorology Research Unit at the Children's Medical Research Institute in Australia and has played a key role in advancing AAV technologies, manufacturing, and clinical application worldwide. He also co-founded and serves as President of the Gene2Cure Foundation, a non-profit organisation dedicated to the development and translation of gene therapies for rare and ultra-rare paediatri, a non-profit organisation dedicated to the development and translation of gene therapies for rare and ultra-rare paediatric genetic conditions .

Dr. Pérez Iturralde is a translational scientist with extensive experience in developing AAV-based therapies for rare genetic diseases, including CTNNB1 syndrome. Her work focuses on bridging preclinical research with clinical translation and navigating the regulatory pathways that enable new therapies to reach patients.

🧠 Presentation: 𝗔𝗔𝗩-𝗕𝗮𝘀𝗲𝗱 𝗚𝗲𝗻𝗲 𝗧𝗵𝗲𝗿𝗮𝗽𝘆 𝗥𝗲𝘃𝗼𝗹𝘂𝘁𝗶𝗼𝗻: 𝗛𝗼𝘄 𝗗𝗶𝗱 𝗪𝗲 𝗚𝗲𝘁 𝗛𝗲𝗿𝗲 𝗮𝗻𝗱 𝗪𝗵𝗮𝘁 𝗜𝘀 𝗡𝗲𝘅𝘁?

Together, they will explore the evolution of AAV gene therapy — from early research breakthroughs to current clinical applications — and discuss what the future holds for the field.

Join us in Barcelona to gain insights into one of the most transformative areas of modern medicine.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open: https://ctnnb1-foundation.org/conference-2026/

Jeans for Genes Australia

07/05/2026

We’re proud to announce that the CTNNB1 Foundation team will be presenting our latest research and clinical progress in CTNNB1 syndrome at the 𝗔𝗦𝗚𝗖𝗧 𝟮𝟬𝟮𝟲 𝗔𝗻𝗻𝘂𝗮𝗹 𝗠𝗲𝗲𝘁𝗶𝗻𝗴 in Boston, May 11–15, 2026.

From preclinical development to clinical translation, our team will share advances in AAV9 gene therapy, surgical delivery strategies, regulatory pathways, and natural history research driving the future of treatment for CTNNB1 syndrome.

🎤 𝗢𝗿𝗮𝗹 𝗣𝗿𝗲𝘀𝗲𝗻𝘁𝗮𝘁𝗶𝗼𝗻𝘀
• Špela Miroševič — Regulatory challenges and lessons from Slovenia’s early experience
📅 Wednesday, May 13 | 08:52–09:18 AM ET

• Damjan Osredkar — First-in-human clinical trial of AAV9-mediated gene augmentation therapy for CTNNB1 neurodevelopmental syndrome
📅 Wednesday, May 13 | 09:00–09:15 AM ET

• Duško Lainšček — Development of an AAV9-mediated gene therapy for CTNNB1 Syndrome
📅 Thursday, May 14 | 11:00–11:15 AM ET

🧬 𝗣𝗼𝘀𝘁𝗲𝗿 𝗣𝗿𝗲𝘀𝗲𝗻𝘁𝗮𝘁𝗶𝗼𝗻𝘀
• Nina Žakelj — Genotypic, Functional, and Phenotypic Characterization of CTNNB1 Neurodevelopmental Syndrome (Poster ID 2375)

• Špela Miroševič — Rationale for dose selection for intracerebroventricular AAV9 gene therapy using a CTNNB1 gene therapy model (Poster ID 2449)

• Damjan Osredkar — Optimal route of AAV9 gene-augmentation therapy delivery to the central nervous system for CTNNB1 neurodevelopmental syndrome: bilateral ICV administration and fast infusion rate (Poster ID 614)

We’re honored to contribute to the global conversation shaping the future of gene therapy and rare disease innovation.

👉 Learn more and register today at https://annualmeeting.asgct.org/

24/04/2026

𝐂𝐚𝐧 𝐮𝐧𝐝𝐞𝐫𝐫𝐞𝐩𝐫𝐞𝐬𝐞𝐧𝐭𝐞𝐝 𝐜𝐨𝐮𝐧𝐭𝐫𝐢𝐞𝐬 𝐡𝐞𝐥𝐩 𝐛𝐮𝐢𝐥𝐝 𝐭𝐡𝐞 𝐟𝐮𝐭𝐮𝐫𝐞 𝐨𝐟 𝐫𝐚𝐫𝐞 𝐝𝐢𝐬𝐞𝐚𝐬𝐞 𝐫𝐞𝐬𝐞𝐚𝐫𝐜𝐡?

We’re honored to welcome Dr. Noemi Agnes Varga as a keynote speaker at the 4th International CTNNB1 Syndrome Conference.

Dr. Varga is a clinical geneticist and final-year neurology fellow at Semmelweis University’s Institute of Genomic Medicine and Rare Disorders. Her work focuses on the intersection of neurogenetics and clinical neurology, with research spanning autism spectrum disorders, epilepsy, and rare neurogenetic conditions. She is particularly passionate about uncovering shared biological pathways and improving recognition of rare diseases that present with common neurological symptoms.

🧠 Keynote: How Underrepresented Countries Can Shape the Future of Rare Disease

Dr. Varga will explore how broader global participation can drive innovation, improve diagnosis, and accelerate progress in rare disease research and care.

Join us in Barcelona to hear this important perspective on the future of global collaboration in rare diseases.

📍 Barcelona, Spain
📅 June 18–19, 2026

🔗 Registration is still open for both in-person and online attendance: https://ctnnb1-foundation.org/conference-2026/

CTNNB1 Foundation

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18/05/2026

15/05/2026

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24/04/2026

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