Research
Research is our hope.
Genetic research, treatment development and clinical trials: how we accelerate the search for a SYNGAP1 cure.
SYNGAP1 is one of the rare diseases with the greatest therapeutic potential: the cause is known and strategies are being developed to restore the function of the gene. We fund research in Portugal and connect it to the international effort.
Genetic research
Characterising SYNGAP1 variants and understanding how each one affects the brain.
Treatment development
Therapies that increase gene expression, including ASO and gene therapy approaches.
Clinical trials
Preparing Portugal to take part in international trials, with data and identified patients.