Curing STXBP1
Driving the research for a cure
STXBP1 Australia works with multiple collaborators and stakeholders to support research that accelerates the development of therapies for our patient community. By fostering partnerships with researchers, physicians, medical industry leaders and other foundations, we share learnings and efficiencies to increase awareness of this rare genetic disorder and identify therapeutic strategies.
Our research
Our pathway to a cure
We believe a cure is possible. Our research follows a three-step pathway — from understanding the disorder, to testing gene therapies in the lab, to pioneering them into human clinical trials.
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Step 1: 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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Step 2: 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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Step 3: 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.
Our partnership
Partnering with Children's Medical Research Institute
STXBP1 Australia has partnered with the Children's Medical Research Institute (CMRI) to undertake a study to understand disease-specific biomarkers in patients with STXBP1 disorder. This collaboration is the foundation's first research study in Australia.
About the CMRI partnership
Understanding STXBP1
The genetics behind STXBP1 disorders
What is the ninth chromosome, and what does it do? In this video, Dr Kristen Park from the Children's Hospital of Colorado explains how a mutation in STXBP1 occurs.
The evidence base
Published journals
Mutations in STXBP1 were first identified in 2008 in five patients with a devastating early infantile epileptic encephalopathy. Today there are over 3,000 medical journal articles referencing STXBP1 disorder.
Browse key publications
“Medical science has proven time and again that when the resources are provided, great progress in the treatment, cure and prevention of disease can occur.”
Research takes funding. Every donation helps us move along the pathway — from biomarkers, to gene therapy, to clinical trials — and closer to a cure for STXBP1.
Donate to fund research