Research
SYNGAP1 census reaches 1,806 patients worldwide
As of 2Q2026, the census stands at 1,806 patients, an increase of 45 from the previous quarter.
Cure SYNGAP1 Portugal
Collaboration. Transparency. Urgency.
Cure SYNGAP1 Portugal works to accelerate research, support families and make sure every person living with SYNGAP1 in Portugal has access to information, care and treatment opportunities.
Latest
Latest news and updates
Research
New preclinical data strengthens the potential of gene-targeted therapies
Results presented at the European rare disease congress show improvements in synaptic function in SYNGAP1 models.
Portugal
The national SYNGAP1 patient registry launches
A secure platform that lets families in Portugal contribute to international research.
Community
First national family meeting brought together 40 participants
A day of sharing between families, clinicians and therapists, with practical sessions on communication and epilepsy.
Families
Our warriors
Porto
Matilde, 3 years old
“We spent two years with no name for what our daughter had. The diagnosis cured nothing, but it gave us a path.”
Coimbra
Tomás, 5 years old
“We learned to measure progress in small steps. Every new word is an achievement for the whole family.”
Lisbon
Beatriz, 12 years old
“Augmentative communication changed everything. Beatriz always had something to say — she just needed the right tools.”
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.
- 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.
Portugal
SYNGAP1 in Portugal
We are building the first national picture of SYNGAP1: how many families there are, where they are and what they need. Every record makes Portugal more visible to international research.
- Diagnosed cases
- 12
Provisional figure
First steps
Have you just received a diagnosis?
You are not alone.
- 01
Understand
Clear, clinician-reviewed information about what SYNGAP1 is and what to expect in the coming months.
- 02
Find support
We connect you to other families in Portugal, to leading professionals and to available social support.
- 03
Look ahead
Patient registry, therapies, school and research participation — step by step, at your own pace.
For families
Resources for families
Practical guides, written in plain language and reviewed by health professionals.
- DiagnosisGenetic testing, results and first steps.
- EpilepsySeizure types, medication and emergency plans.
- DevelopmentMilestones, early intervention and autonomy.
- CommunicationSpeech, AAC and assistive technology.
- SleepRoutines, common difficulties and strategies.
- BehaviourSelf-regulation, anxiety and strategies at home.
- SchoolInclusive education, support measures and coordination.
- TherapiesPhysiotherapy, speech and occupational therapy.
- Rights and support in PortugalCertificates, benefits and social support.
- Clinical trialsHow they work and how to take part.
Community
We are not alone
Cure SYNGAP1 Portugal brings together everyone who lives and works with SYNGAP1 every day. Together we turn experience into knowledge, and knowledge into treatment.
- Families — The centre of everything we do.
- Doctors — Neuropaediatrics, genetics and continuing care.
- Researchers — Basic, clinical and translational science.
- Therapists — Speech, occupational, physiotherapy and psychology.
- Volunteers — Communications, events and fundraising.
Support us
A cure needs research.
Every donation funds concrete work: research grants, the national patient registry, the translation of medical information into Portuguese and preparing Portugal for clinical trials. 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
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