Preliminary programme
| SESSION 1 | |
Patient Advocacy | |
| 09:00 | Regsitration and coffee |
| 10:00 | Welcome by CTNNB1 Foundation & Asociación CTNNB1 Špela Miroševič, PhD & Estíbaliz Martin Medina – Presidents CTNNB1 Foundation (Slovenia) and Asociación CTNNB1 (Spain) |
| 10:10 | CTNNB1 Foundation Špela Miroševič, PhD – Founder and President of CTNNB1 Foundation (Slovenia) |
| 10:25 | Spanish Federation of Rare Diseases (FEDER) Juan Carrión Tudela – President FEDER (Spain) |
| 10:35 | The power of patient groups Francisco Santiago Aranda – President Mi Princesa Rett (Spain) |
| 10:45 | CTNNB1 Syndrome from a parent perspective Effie Parks – Creator of award winning podcast "Once upon a gene" (USA) |
| SESSION 2 | |
Current management strategies for CTNNB1 Syndrome | |
| 11:00 | Multidisciplinary therapy approaches for CTNNB1 patients Eun Young Yoon | Elena Rodriguez Molina | Natalia Otero Mejía – Pediatric PT, Centro Union y Espacio Personal | Director and psychologist, Centro de Atencion Temprana Caracas | Ecrinoterapias (Spain) |
| 11:30 | Symptomatic pharmacological therapies David Gomez, MD – Paediatric Genetist at Vall d´Hebron Hospital, Barcelona (Spain) |
| 11:40 | CTNNB1-related eye diseases: screening and treatment Drew Scoles, MD, PhD – Retina Paediatrician at the Division of Ophthalmology - Children's Hospital of Philadelphia (USA) |
| 11:50 | Experience using the ATLAS 2030 exoskeleton with children Dr Irma Garcia Oliveros, PT – Aita Menni-Hermanas Hospitalarias (Spain) |
| 12:00 | Psychological support for families dealing with rare diseases David Gosar, PhD – Clinical Psychologist at Department of Child, Adolescent and Developmental Neurology - Ljubljana Medical Center (Slovenia) |
| 12:15 | Cognitive profile in CTNNB1 syndrome Imanol Amayra, PhD | Mercé Pallares Sastre – Director | Researcher at Neuro-e-motion team- Universidad de Deusto (Spain) |
| 12:30 | Inclusion and quality of life Miguel Ángel Verdugo, PhD – Prof. Disability Psychology - University of Salamanca (Spain) |
| 12:45 | Conversation & Input |
| 13:00 | Networking lunch break |
| SESSION 3 | |
Genotype, phenotype and characterization of mutations | |
| 14:30 | Aetiology and molecular basis of CTNNB1 Syndrome Amaia Lasa Aranzasti, MD – Pediatric genetist at Vall d´Hebron Hospital, Barcelona (Spain) |
| 14:45 | Lessons learned from published literature Shivang Khandelwar – PhD Student at Hebrew University of Jerusalem (Israel) |
| 15:00 | Symptoms and challenges in patients with CTNNB1 Syndrome Nina Žakelj, MD – Resident at Pediatric Neurology Department, Children´s University Hospital of Ljubljana (Slovenia) |
| 15:15 | Genotype-phenotype Analysis Damjan Osredkar, MD, PhD – Assoc. Prof. and Head of Paediatric Neurology Department, Children´s University Hospital of Ljubljana (Slovenia) |
| 15:30 | Biochemical characterization of mutations Edwin Chan, PhD – Director of Laboratory of Drosophila Research, School of Life Sciences (Hong Kong) |
| 15:45 | Brain organoids in the study of CTNNB1 mutations Rami Aqeilan, PhD – Prof. at the Lautenberf Centre for Immunology and Cancer Research, Jerusalem (Israel) |
| 16:00 | Conversation & Input |
| 16:30 | Virtual meaningfull sharing session Moderator: Effie Parks |
| 19:00 | Gala dinner |
| SESSION 1 | |
Challenges and opportunities in the development of advanced therapies for CTNNB1 syndrome | |
| 08:30 | Arrival and coffee |
| 09:30 | Roadmap of molecular approaches Ana Gonzalez Hernandez, PhD – Vice president of CTNNB1 Foundation and CTNNB1 mother |
| 09:40 | Gene replacement therapy Leszek Lisowski, PhD – Assoc. Prof. and Head of Translational Vectorology Unit, CMRI, Universidad de Sydney (Australia) |
| 10:00 | Antisense oligonucleotides and CRISPR-based technologies Petra Sušjan, PhD – Researcher at the Department of Synthetic Biology and Immunology, National Institute of Chemistry (Slovenia) |
| 10:15 | CRISPR/Cas-based therapeutic approaches Duško Lainšček, PhD – Researcher at the Department of Synthetic Biology and Immunology, National Institute of Chemistry (Slovenia) |
| 10:30 | Drugs that target N-cadherin/β–catenin interaction Valter Tucci, PhD – Director Genetics and Epigenetics of Behaviour Unit, Italian Institute of Technology (Italy) |
| 10:45 | Conversation & Input |
| SESSION 2 | |
Gene replacement therapy for CTNNB1 Syndrome: advancements & challenges | |
| 11:00 | Gene Therapy for rare diseases: lessons learned from SMA Damjan Osredkar, MD, PhD – Assoc. Prof. and Director of Pediatric Neurology Department, Children´s University Hospital of Ljubljana (Slovenia) |
| 11:15 | Effectiveness of GRT in IPSCs and organoids Andrea Pérez Iturralde, PhD – Researcher Translational Vectorology Unit, CMRI, Universidad de Sydney (Australia) |
| 11:30 | Evaluation of GRT in CTNNB1 mouse model Adriano Lima, PhD – Director Business development Europe, The Jackson Laboratory (USA) |
| 11:45 | Efficacy of AAV9 in CTNNB1 mice: overview of the study and status update Taneli Heikkinen, PhD – Principal Scientist, Charles River (Findland) |
| 12:00 | Centre of excellence for the technologies of gene and cell therapy Roman Jerala, PhD – Prof. and Director Department of Synthetic Biology and Immunology, National Institute of Chemistry (Slovenia) |
| 12:15 | Conversation & Input |
| 12:30 | Networking lunch break |
| SESSION 3 | |
Challenges of the future | |
| 14:00 | Facilitation of advanced therapies for rare diseases Damiá Tormo, PhD – Trustee Fundación Columbus (Spain) |
| 14:15 | Viralgen: Insights to gene therapy manufacturing César Trigueros, PhD – Chief Scientific Officer, Viralgen (Spain) |
| 14:30 | From lab to clinic: the translational challenges of advanced therapies Maria Orio – Director Regulatory Affairs CMC, Viralgen (Spain) |
| 14:45 | Cross-border access to clinical trials in EU and Australia Sneha Kranthi – Quality Program Manager and CTNNB1 family (EEUU) |
| 15:00 | Meaningfull sharing: the story of Irai and AADC Carolina Moreno Romero – Mother of Irai, Asociació Irai (Spain) |
| 15:15 | Conversation & Input, closing |
| 17:30 | Cultural activity |
