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Research

Research is our hope.

Genetic research, treatment development and clinical trials: how we accelerate the search for a SYNGAP1 cure.

Research

Research is our hope.

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.

Researchers analysing genetic sequencing data in a laboratory
  • 01

    Genetic research

    Characterising SYNGAP1 variants and understanding how each one affects the brain.

  • 02

    Treatment development

    Therapies that increase gene expression, including ASO and gene therapy approaches.

  • 03

    Clinical trials

    Preparing Portugal to take part in international trials, with data and identified patients.

Support us

A cure needs research.

Every donation funds concrete work: research grants, the national patient registry, communication efforts and preparing Portugal for clinical trials. It also supports occasional help for families living with SYNGAP1. We are a non-profit organisation and we account for every euro.

  • 100% of donations go to research and family support
  • Public annual financial report
  • Partnerships with European research centres

Continue

Where to go next

Explore the main areas of the site: about the condition, family support, research and how to help.