Help us turn the 'incurable' into 'curable'
STXBP1 is a rare genetic disorder, affecting just over 20 families in Australia.
Children with an STXBP1-related disorder have a variant in the gene STXBP1, which encodes the instructions to make a protein that is essential to how brain cells communicate with one another. Individuals with variants in the STXBP1 gene often have epilepsy, developmental delays or intellectual disability, autism or autistic features, movement disorders and differences in muscle tone . Though the range and severity of symptoms experienced varies by individual, STXBP1 affects a child’s ability to walk, talk and socialise. For most children born with STXBP1-related disorders, the variation occurs spontaneously and cannot be predicted, as it is not inherited from either parent . There are currently no effective treatments or cures. The impact on the child’s life, their family and carers is often devastating.
Our Goal: Solving STXBP1
While much work remains to be done, the development of novel therapies is a highly feasible research avenue that can offer the possibility of a curative solution for individuals with STXBP1. Experienced researchers at Children’s Medical Research Institute (CMRI), the University of Sydney, the University of New South Wales, the Sydney Children’s Hospital Network and Queensland Brain Institute are expertly placed to drive outcomes in pioneering this research.
Before curative solutions can be developed, its essential to better understand the disorder so that useful clinical biomarkers and disease drivers can be identified. We aim to achieve this by measuring the genes, proteins and metabolites in patients with STXBP1. Excitingly, this year we have already secured $20,000 of competitive grant funding to conduct research into identifying metabolites that are dysregulated in STXBP1 individuals.
What do we need next?
Using patient samples, we now plan to identify biomarkers of STXBP1. The data we generate will have multiple benefits:
· It will help clinicians determine how the disease progresses,
· It will allow us to determine targets for therapeutics that can provide relief to patients, and
· It could become an important endpoint marker for future clinical trials
$15,000 will help us conduct essential biomarker studies that will generate the additional data we need.
We also need a dedicated researcher to spend time conducting these studies, analysing data, and coordinating with labs across Australia.
$22,000 will help us hire a talented Research Assistant to spend one day a week this year dedicated to STXBP1.
We need your help to make this vital work a reality.
Together, we can make a real and impactful change. Your gifts and support can help us make significant headway to developing safe and effective therapies.
Project Champions
We are fortunate to consult with the leading STXBP1 researchers in Australia, combining their expertise in medical science and clinical science, to form a dynamic ‘translational’ program. This project is uniting researchers who make gene transfer and editing tools, with those using these tools to treat disease, to hopefully bring novel treatment options to paediatric patients.
Associate Professor Wendy Gold
A/Prof Gold is the head of the Molecular Neurobiology Laboratory at Kids Research and the University of Sydney, based at the Children’s Hospital at Westmead, and an Adjunct Research Scientist in Molecular Neurobiology with CMRI.
You can read more about A/Prof Gold at her website: https://www.cmrijeansforgenes.org.au/research/research-teams/molecular-neurobiology
Dr Alexander Wykes: Post-doctoral Researcher (CMRI)
Dr Deepak Gill: Paediatric Neurologist (The Sydney Children’s Hospital Network)
Dr Kavitha Kothur: Paediatric Neurologist (The Sydney Children’s Hospital Network)
Professor Frederic Meunier: Neurobiologist (Queensland Brain Institute)
Dr Elizabeth Emma Palmer: Clinical Geneticist (The Sydney Children’s Hospital Network)
Help Us Kick-Start a Solution for STXBP1
Though STXBP1 is a rare disease, we want all affected children and their families to know they are not alone. Our aim is to provide children born with STXBP1 the best chance of positive progress and outcomes in their lives. Through the power of biomedicine, our researchers are ready to help find a curative solution.
Your philanthropic support of this vital, life-impacting research will represent an investment in the future of children across Australia and globally who are living with STXBP1. We hope you will join us.
You can read more about STXBP1-related conditions at these reliable websites:
· NORD: https://rarediseases.org/rare-diseases/stxbp1-disorders/
· UNIQUE: https://rarechromo.org/guide/stxbp1-disorders/
· GeneREVIEWS: https://www.ncbi.nlm.nih.gov/books/NBK396561/
Thank you to our Sponsors
$20k
