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STXBP1 Australia
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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.

A scientist examining samples in a research laboratory.

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.

  1. 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 an STXBP1 disorder.

  2. 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.

  3. 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.

A smiling boy walking along a balance beam during a therapy session.

This is who the research is for

Children like him work on balance, strength and every small step in therapy, week after week. Each stage of this pathway brings a treatment that could change their lives a little closer.

Fund the next step

Our partnership

Partnering with the University of Sydney

STXBP1 Australia has partnered with the University of Sydney and Professor Wendy Gold's Molecular Neurobiology Lab to understand disease-specific biomarkers in people with an STXBP1 disorder, and to develop gene therapies using lab-grown brain organoids.

About the partnership

We also partner with Dr Laura Croft at QUT on personalised antisense (ASO) therapies, and are now building patient-derived cell models to test them. About the QUT partnership →

A researcher looking through a microscope in a laboratory.

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
A page from a published STXBP1 research paper by Xian et al.
Xian et al. 2021
A child living with an STXBP1 disorder, supported by their family.

“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.”

Michael J. Fox

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