Get moving for gene therapy
We are moving towards the prevention and cure of genetic diseases, TMB's 2022 charitable cause.
Genetic diseases affect around 7% of the world's population. Help us reach our destination!
The people working at TMB chose gene therapy as the company's main charitable cause. TMB has scheduled a series of awareness-raising activities for the last quarter of the year, under the slogan Mou-te per la terapia genetica (Get moving for gene therapy), in collaboration with the CTNNB1 Association.
Genetic or gene therapy is a set of techniques that use the transfer of genetic material to prevent or cure certain diseases, whose treatments find it difficult to direct genetic material specifically to cells or tissues and the regulation of the gene. Some illnesses such as child Parkinson’s or spinal muscle atrophy have satisfactory results when using these techniques.
The CTNNB1 gene is a good candidate for genetic replacement therapy, as the syndrome is caused by a loss of function due to a mutation, i.e. a copy of the gene does not work correctly, and also because it is a gene that is small enough to adapt to the chosen vector. There are currently 19 children diagnosed by this syndrome in Spain, 6 of whom live in Catalonia.
Ignorance of this syndrome becomes the first problem for the health circuits to access the diagnostic test (the complete exome) to be shortened and therefore, it is very likely that there are more undiagnosed cases.
The objectives of the campaign
- To introduce gene therapy and the results obtained for certain pathologies.
- To give visibility to practical success cases in rare diseases.
- Raise awareness for the need for funding for clinical trials and the implementation of this type of therapy.
- Raise awareness about CTNNB1 syndrome.
- Information exhibition at Diagonal station hall. From the 16th of November until the 15th of December.
- Storytelling ‘Matilda i la papallona’: activity for 3rd year primary school children: week of the 12th of December.
- Informative video to present the cause.
It is the most common cause of misdiagnosed cerebral palsy. It is therefore a serious minority disease in neuro-development.
It occurs when one of the two copies of the CTNNB1 gene has lost its normal function due to the presence of mutations in this gene. This generally involves ‘new’ mutations (not inherited from parents).
The CTNNB1 gene encodes the beta-catenin protein, which plays an essential role in brain development.
The main symptoms presented by CTNNB1 are:
- Learning difficulties
- Hypersensitivity to noise
- Speech disorders
- Sleep disorders
- Conduct disorders
- Vision disorders
- Proprioceptive problems with balance and coordination.
The definitive diagnosis of this disease is done through the human genome sequencing test (WES). There are different types of therapies that help children to overcome the milestones they do not reach at the appropriate age, although there is currently no care. Despite this, there are scientific programmes to develop gene therapy specifically for this syndrome.
The CTNNB1 Foundation
This association leads research a cure for CTNNB1 syndrome, through an extensive network of international collaborators and researchers.
These vectors will be used in the first preclinical study in mice in September 2022. Once the clinical phase commences, the Columbus Foundation will manage the research of centres and means needed to apply the drug.
At the same time, progress continues on the development of the ASO system, which they hope to assess in a preclinical trial in 2023.
The CTNNB1 Foundation is currently collaborating with CTNNB1 España association on preparing the 1st International Conference on CTNNB1 Syndrome, which will take place in March 2023 in Madrid. The main objective of this event is to inform about the latest scientific advances, to advocate diagnosis and early intervention and to bring together the network of researchers, families and collaborators.
Get informed on CTNNB1 Association website (ES).