Gene therapy, at the center of the first International Congress on CTNNB1 Syndrome

The first International Congress on CTNNB1 Syndrome has brought together health professionals, researchers and patient associations in Madrid to share the advances in gene therapy research around this syndrome, a rare disease that manifests as a disorder of the severe neurodevelopment.

Currently, it affects less than 30 children in Spain and it is underdiagnosed, since it presents symptoms that can often be misdiagnosed as cerebral palsy. The first cases were diagnosed in 2012.

The president of the CTNNB1 Foundation, Spela Mirosevic, explained that “for now there is no cure or effective treatment for these patientsbut based on previously developed therapies for other neurodegenerative diseases, there is a realistic opportunity to create an effective treatment for CTNNB1 syndrome.”

For her part, Estíbaliz Martín, president of the CTNNB1 Spain Association, highlighted the importance of this first congress for familiessince it helps them “to give visibility to our realities, and to do everything possible so that their future can be better”.

In addition to presenting research updates on treatment solutions for accelerate the development of a cure and achieve an early diagnosis of the disease, the event has also aimed to centralize knowledge and practices on current management techniques and perspectives, and to bring together patients and promote the exchange of experiences.

Among the doctors and researchers, the presence of Dr. Leszek Lisowski, Head of the Australian Children’s Medical Research Institute Unit; Dr. Roman Jerala, head of the Department of Synthetic Biology and Immunology at the National Institute of Chemistry in Ljubljana, Slovenia; and Dr. Damian Osredkar, Head of the Department of Pediatric Neurology at the University Medical Center in Ljubljana, Slovenia.

At the national level, the participation of Dr. Amaia Lasa, a pediatrician and clinical geneticist, and Dr. Gómez, of pediatric neurology, both from the Vall d’Hebron Reference Hospital; also of Miguel Angel Verdugo, Professor of Psychology of Disability in the ‘Personality, Evaluation and Psychological Treatment’ Department of the Faculty of Psychology of the University of Salamanca, and director of INICO; and Dr. Imanol Amayra, professor and director of the Neuro-e-motion Team, University of Deusto.