a rare genetic disorder

help us cure stxbp1

Funding and driving research to accelerate the discovery of a cure.

families in australia
about us

our mission

We aim to drive research into STXBP1 disorders through awareness and education so that we can accelerate the discovery of a cure for STXBP1

our research

We believe a cure is possible. Understand our pathway to gene therapies.

get involved

Join us! Find out how you can get involved at our next event.

our stories

Get to know our journey and learn about the hardship of living with STXBP1

about stxbp1

seizures are a key symptoms of stxbp1

STXBP1 is a complex, congenital neurodevelopment disorder. 85% of people with STXBP1 will have epilepsy, for some seizures can start as early as from birth. To manage treatment STXBP1 patients are subject to electroencephalogram (EEG) tests that measures electrical activity in the brain using small, metal discs (electrodes) attached to the scalp. These test are often uncomfortable and traumatic.

Present with epilepsy

our kids work hard to achieve ordinary goals

A typical week includes multiple therapies such as physiotherapy, dynamic movement intervention, speech pathology, hydrotherapy and occupational therapy.

feature family

annabelle’s story

Annabelle started experiencing seizures from just fourteen months old. By two years old she was diagnosed with developmental delays, autism, and epilepsy. During her early years of childhood, although she was making slow progress, she could run, climb, self-feed, and play with blocks and puzzles. However, all this changed at age four when she experienced a major regression in her abilities.

Did you know?

STXBP1 is the 5th most common diagnosis in patients referred for genetic testing for epilepsy

Although STXBP1 disorders are rare, it is one of the most common diagnoses for patients presenting with an unknown cause of epilepsy

our research

our pathway to a cure

The three step pathway to finding a cure for STXBP1 disorders


establish biomarkers

Better understand the disorder by identifying useful biomarkers and disease drivers. We will achieve this by measuring the genes, proteins and metabolites in patients with STXBP1


Gene Therapy

Test innovative gene therapies. We will collect patient blood cells and turn them into stem cells to create a lab model to test the response of various gene therapies.


clinical trials

Using the successful gene therapy from the lab results, we will pioneer the therapy into human clinical trials for those affected by STXBP1 disorder.

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