Madrid, Spain
1st International
CTNNB1 Syndrome

23th to 24th March 2023

Welcome to our conference!
Thank you for joining our flight to improve the lives of patients affected by CTNNB1 Syndrome.

Meet the Organisers

This Networking event has received funding from the European Union's Horizon 2020 Research and Innovation Programme under the EJP RD COFUND-EJP N°82557.

The CTNNB1 Syndrome is a rare and severe neurodevelopmental disorder associated with general developmental delay, intellectual disability, visual defects, autistic behaviours and speech delay. With as few as 300 cases confirmed, many CTNNB1 patients are commonly misdiagnosed with cerebral palsy, suggesting that the actual number of affected persons is greatly underestimated. Increasing awareness and knowledge of CTNNB1 syndrome is thus essential to promote early diagnosis, provide specific support to patients and families and to foster the development of effective treatments.

In this unprecedented event for the CTNNB1 community, we want to bring together healthcare professionals, industry, families, and patient advocacy organizations working together to raise awareness, accelerate the development of effective treatments and improve the lives of those affected with CTNNB1 syndrome.

Preliminary programme

Patient Advocacy

09:00Regsitration and coffee
10:00Welcome by CTNNB1 Foundation & Asociación CTNNB1
Špela Miroševič, PhD & Estíbaliz Martin Medina – Presidents CTNNB1 Foundation (Slovenia) and Asociación CTNNB1 (Spain)
10:10CTNNB1 Foundation
Špela Miroševič, PhD – Founder and President of CTNNB1 Foundation (Slovenia)
10:25Spanish Federation of Rare Diseases (FEDER)
Juan Carrión Tudela – President FEDER (Spain)
10:35The power of patient groups
Francisco Santiago Aranda – President Mi Princesa Rett (Spain)
10:45CTNNB1 Syndrome from a parent perspective
Effie Parks – Creator of award winning podcast "Once upon a gene" (USA)
Current management strategies for CTNNB1 Syndrome

11:00Multidisciplinary 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)
11:30Symptomatic pharmacological therapies
David Gomez, MD – Paediatric Genetist at Vall d´Hebron Hospital, Barcelona (Spain)
11:40CTNNB1-related eye diseases: screening and treatment
Drew Scoles, MD, PhD – Retina Paediatrician at the Division of Ophthalmology - Children's Hospital of Philadelphia (USA)
11:50Experience using the ATLAS 2030 exoskeleton with children
Dr Irma Garcia Oliveros, PT – Aita Menni-Hermanas Hospitalarias (Spain)
12:00Psychological support for families dealing with rare diseases
David Gosar, PhD – Clinical Psychologist at Department of Child, Adolescent and Developmental Neurology - Ljubljana Medical Center (Slovenia)
12:15Cognitive profile in CTNNB1 syndrome
Imanol Amayra, PhD | Mercé Pallares Sastre – Director | Researcher at Neuro-e-motion team- Universidad de Deusto (Spain)
12:30Inclusion and quality of life
Miguel Ángel Verdugo, PhD – Prof. Disability Psychology - University of Salamanca (Spain)
12:45Conversation & Input
13:00Networking lunch break
Genotype, phenotype and characterization of mutations

14:30Aetiology and molecular basis of CTNNB1 Syndrome
Amaia Lasa Aranzasti, MD – Pediatric genetist at Vall d´Hebron Hospital, Barcelona (Spain)
14:45Lessons learned from published literature
Shivang Khandelwar – PhD Student at Hebrew University of Jerusalem (Israel)
15:00Symptoms and challenges in patients with CTNNB1 Syndrome
Nina Žakelj, MD – Resident at Pediatric Neurology Department, Children´s University Hospital of Ljubljana (Slovenia)
15:15Genotype-phenotype Analysis
Damjan Osredkar, MD, PhD – Assoc. Prof. and Head of Paediatric Neurology Department, Children´s University Hospital of Ljubljana (Slovenia)
15:30Biochemical characterization of mutations
Edwin Chan, PhD – Director of Laboratory of Drosophila Research, School of Life Sciences (Hong Kong)
15:45Brain organoids in the study of CTNNB1 mutations
Rami Aqeilan, PhD – Prof. at the Lautenberf Centre for Immunology and Cancer Research, Jerusalem (Israel)
16:00Conversation & Input
16:30Virtual meaningfull sharing session
Moderator: Effie Parks
19:00Gala dinner
Challenges and opportunities in the development of advanced therapies for CTNNB1 syndrome

08:30Arrival and coffee
09:30Roadmap of molecular approaches
Ana Gonzalez Hernandez, PhD – Vice president of CTNNB1 Foundation and CTNNB1 mother
09:40Gene replacement therapy
Leszek Lisowski, PhD – Assoc. Prof. and Head of Translational Vectorology Unit, CMRI, Universidad de Sydney (Australia)
10:00Antisense oligonucleotides and CRISPR-based technologies
Petra Sušjan, PhD – Researcher at the Department of Synthetic Biology and Immunology, National Institute of Chemistry (Slovenia)
10:15CRISPR/Cas-based therapeutic approaches
Duško Lainšček, PhD – Researcher at the Department of Synthetic Biology and Immunology, National Institute of Chemistry (Slovenia)
10:30Drugs that target N-cadherin/β–catenin interaction
Valter Tucci, PhD – Director Genetics and Epigenetics of Behaviour Unit, Italian Institute of Technology (Italy)
10:45Conversation & Input
Gene replacement therapy for CTNNB1 Syndrome: advancements & challenges

11:00Gene 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)
11:15Effectiveness of GRT in IPSCs and organoids
Andrea Pérez Iturralde, PhD – Researcher Translational Vectorology Unit, CMRI, Universidad de Sydney (Australia)
11:30Evaluation of GRT in CTNNB1 mouse model
Adriano Lima, PhD – Director Business development Europe, The Jackson Laboratory (USA)
11:45Efficacy of AAV9 in CTNNB1 mice: overview of the study and status update
Taneli Heikkinen, PhD – Principal Scientist, Charles River (Findland)
12:00Centre 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)
12:15Conversation & Input
12:30Networking lunch break
Challenges of the future

14:00Facilitation of advanced therapies for rare diseases
Damiá Tormo, PhD – Trustee Fundación Columbus (Spain)
14:15Viralgen: Insights to gene therapy manufacturing
César Trigueros, PhD – Chief Scientific Officer, Viralgen (Spain)
14:30From lab to clinic: the translational challenges of advanced therapies
Maria Orio – Director Regulatory Affairs CMC, Viralgen (Spain)
14:45Cross-border access to clinical trials in EU and Australia
Sneha Kranthi – Quality Program Manager and CTNNB1 family (EEUU)
15:00Meaningfull sharing: the story of Irai and AADC
Carolina Moreno Romero – Mother of Irai, Asociació Irai (Spain)
15:15Conversation & Input, closing
17:30Cultural activity

Practical Information

Caixa Forum Madrid

CaixaForum Madrid stands imposingly in the heart of the city, next to the so-called art triangle formed by the Prado Museum, the Thyssen-Bornemisza and the Reina Sofia.

Remodelled in 2002, it was enlarged and designed to blend in with its surroundings. A work of contrasts that combines the old and the modern, with a result that resembles an art installation.

The center is accompanied by a vertical garden, the work of French landscape designer Patrick Blanc.

More info:


The Radisson RED is a four-star hotel located just a 5-minute walk from the CaixaForum in the centre of Madrid, allowing easy access to everything the city has to offer. A perfect choice!

The rooms at the Radisson RED Hotel are available at the special rate of 175 EUR per night in a double room and 160 EUR in a single room (breakfast included) for conference attendees.

You can easily pre-book your room during the registration process. Please note that full payment in advance is required to guarantee your reservation (invoice will follow shortly after confirmation of your registration).


In Spain it is no longer mandatory to wear a mouth mask, except in the following situations:

  • Employees and visitors of medical and other assistance centres, including pharmacies.
  • Employees and visitors of residential care and day care centres.
  • On public transportation.

Click below for the latest updates on Covid-19 measures when travelling to Spain from abroad:

With the support of