Grant awarded to Murdoch Children’s Research Institute (MCRI) for economic evaluation of rapid trio genome sequencing (rGS) in infantile epilepsy

Infant epilepsies are devastating disorders affecting 1 in 1,000 people and can lead to treatment-resistant seizures, severe developmental impairments, and mortality. These disorders place a heavy psychosocial burden on families and economic strain on healthcare systems. 

Prompt, effective seizure treatment can improve developmental outcomes, but current genomic testing in clinical practice often falls short in speed and quality, delaying optimal management. The Gene-STEPS (Shortening Time of Evaluation in Paediatric epilepsy Services) study was launched by the International Precision Child Health Partnership (IPCHiP) of world-leading paediatric institutes, including MCRI, in 2021 to address this unmet need by using rapid trio genome sequencing (rGS) with a three-week turnaround time. However, evidence of the economic value of rGS is crucial for ensuring equitable access to this cutting-edge diagnostic technology for infants with epilepsy.

With new funding support from UCB, MCRI will evaluate the economic value of rGS compared to standard genomic testing. The study will assess the cost-effectiveness of rGS by collecting data on health resource use, personal utility, quality of life, clinical utility, and diagnostic yield. The goal is to determine whether the benefits of rGS justify its additional cost, potentially supporting its clinical use and public funding for infants with epilepsy. 

Continued financial support to the Raoul Wallenberg Australian Pregnancy Register for women on anti-epileptic medication

UCB Australia is committed to providing ongoing financial support to the Australian Pregnancy Register, which has been running nationally for over 23 years, to help support research on epilepsy in pregnancy. 

Through the Australian Pregnancy Register, information about pregnant women with epilepsy is observed and collected to help determine which anti-epileptic drugs are safest for baby, while protecting the mother from seizures. 

With funding from UCB Australia, information obtained from the Australian Pregnancy Register is helping to get closer to defining safer treatment options, impacting clinical practice for women with epilepsy in Australia and internationally. The research findings obtained so far have been published in three journals and presented at two conferences. With continued support from UCB, future work being conducted by the Australian Pregnancy Register includes investigating newer anti-epileptic drugs on the market.

Applications open for the ESA – UCB Australia clinical scholarship

Awarded since 2004, UCB Australia is proud to support an annual scholarship to the Epilepsy Society of Australia (ESA) to fund the salary of a young physician undertaking further training in clinical epileptology. Applications are evaluated by the Education Subcommittee of the ESA. The scholarship is presented each year at the ESA Annual Scientific Meeting (ASM).
The scholarship is tenable at any Australian teaching hospital for a maximum of 12 months.
Applicants are scored according to the following criteria:

• An interest in clinical epilepsy as demonstrated by:

  - Previous clinical epilepsy experience/training
  - Research and/or publications in epilepsy
  - An epilepsy training program with clear and achievable goals

• Demonstration of an adequately resourced environment to support epilepsy training
• Demonstration of the applicant’s capacity/desire to make a meaningful contribution to epilepsy care

Candidates may obtain up to 50% of the UCB Australia Scholarship amount from another source to top up a full-time salary.  

For more information about the eligibility criteria or application process, please contact enquiries@epilepsy-society.org.au. Applications for the scholarship should be made to the ESA secretariat by email.

Continued funding to support the work of Rare Voices Australia

UCB Australia is committed to providing ongoing funding to support the work of Rare Voices Australia (RVA), the national peak body for Australians living with a rare disease. RVA advocates for the best outcomes for Australians living with a rare disease.

Through funding support from UCB Australia and others, RVA has conducted mentorship and education initiatives. This includes providing clinical education through Rare Disease Project ECHO^®, individualised HTA mentoring to RVA Partners (rare disease groups/organisations) and organising the biennial National Rare Disease Summit.

With financial support from UCB Australia and others, RVA will be able to continue providing these important mentoring and education initiatives to help build the capacity, credibility and visibility of the Australian rare disease sector.