A rare genetic disorder
Help us cure STXBP1.
Funding and driving research to accelerate the discovery of a cure.
- Families in Australia
- 30+ Families in Australia
- Present with epilepsy
- 85% Present with epilepsy
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.
Read our mission
About STXBP1
Seizures are key symptoms of STXBP1
STXBP1 is a complex, congenital neurodevelopmental 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 measure electrical activity in the brain using small metal discs (electrodes) attached to the scalp. These tests are often uncomfortable and traumatic.
More details
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.
Featured 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.
Read Annabelle's storyDid 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.
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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.
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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.
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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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