a rare genetic disorder
help us cure stxbp1
Funding and driving research to accelerate the discovery of a cure.
families in australia
We aim to drive research into STXBP1 disorders through awareness and education so that we can accelerate the discovery of a cure for STXBP1
We believe a cure is possible. Understand our pathway to gene therapies.
Join us! Find out how you can get involved at our next event.
Get to know our journey and learn about the hardship of living with 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
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.
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 pathway to a cure
The three step pathway to finding a cure for STXBP1 disorders
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
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.
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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