In a world first, A/Prof Wendy Gold applied a multi-omic approach to identify blood biomarkers to the rare disease STXBP1. Presented at the STXBP1 Summit conference in Philadelphia 18-19 July 2024, A/Prof Gold received interest from multiple organisations and researchers about the innovative STXBP1 biomarker studies.

Biomarker studies use less invasive blood samples, which then supplement physical and genetic tests, to indicate the pathogenic processes and changes (functional genomics) which may occur as a result of therapeutic treatment.

Wendy says that “Without the Luminesce Alliance (LA) Functional Genomics Enabling Platform and the initial LA funded Rett biomarker study, this research would not have happened.

“The LA Functional Genomics Enabling Platform provides us with much more accessible world class resources and networking -networking- networking”. This is the lifeblood of researchers, being able to connect effortlessly with someone at the top of their field for something that is outside of your field of expertise.

“The initial LA funding has assisted us in gaining further funding from the Medical Research Future Fund grant last year, to look for biomarkers in brain organoids from Rett syndrome patients. The LA Functional Genomics Enabling Platform has also allowed us to expand our work beyond Rett syndrome to include STXBP1 and other rare diseases.

Wendy says most rare disease research is driven by family collectives raising funds to start the research.

“There are 7,000 rare diseases and it is hard for families to fund research support for their rare disease. Because of the increased accessibility afforded to me by the LA Functional Genomics Enabling Platform, it is so rewarding for me to now be able to say to families that yes, I can do this research for you.”

A/Prof Wendy Gold is presenting at the Functional Genomics Session, sponsored by University of Sydney, at the 2024 Luminesce Alliance Conference 7-8 November at UNSW, Sydney.

A/Prof Wendy Gold is an academic in the Faculty of Medicine and Health, School of Medical Sciences, The University of Sydney; is Head of the Molecular Neurobiology Research Group, Kids Neuroscience Centre, Sydney Children’s Hospitals Network and is an Adjunct Research Scientist with the Children’s Medical Research Institute.

About Luminesce Alliance Enabling Platforms

The LA Functional Genomics Platform is one of five LA Enabling Platforms that form a pipeline of functional specialisations across disease areas and organisations. Luminesce Alliance is currently calling for Expressions of Interest in using the LA Functional Genomics Enabling Platform.

 About the Luminesce 2024 Conference: Paediatric Precision Medicine: Advancing research and patient care

About | Call for Abstracts | Early Bird Registration | Sponsorship

About Luminesce Alliance

Luminesce Alliance is a joint venture between the Sydney Children’s Hospitals Network, the Children’s Medical Research Institute, the Children’s Cancer Institute, UNSW Sydney and the University of Sydney. It has been established with the support of the NSW Government to coordinate and integrate paediatric precision medicine research. Luminesce Alliance has made a significant impact in our first four years. Read more.