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Conference 2025 · Parkville
Genetic Epilepsy Team Australia’s 2025 Genetic Epilepsy Conference
Join us for our 2025 meeting on Saturday 3rd May. Participating in the conference is a great opportunity for families, researchers and clinicians to hear the latest research in genetic epilepsy and developmental and epileptic encephalopathies (DEEs).
Recordings
An update on new treatments and clinical trials for genetic therapies
Prof Andreas Brunklaus
In this powerful talk, Dr. Andreas Brunklaus explores the cutting edge of treatment for rare genetic epilepsies, with a focus on Dravet syndrome and SCN1A-related disorders. He outlines the rapid evolution from gene discovery to disease-modifying therapies, including antisense oligonucleotides (ASOs) and gene regulation techniques.
Talk details & transcript →5 minutes with… Milanie Gonato
In this deeply moving and inspiring talk, Mil shares her family’s journey—from early concerns during pregnancy to Stella’s diagnosis with a rare genetic condition, and the powerful role of rapid genomic sequencing through the GeneSTEP study.
Talk details & transcript →International collaboration is key
Prof Ingrid Scheffer
Prof. Ingrid Scheffer reflects on her recent sabbatical, sharing insights from her global collaborations and groundbreaking research in developmental and epileptic encephalopathies (DEEs). From the power of parent-led advocacy to the promise of precision medicine, Prof. Scheffer discusses advances in gene discovery, natural history studies, and new therapeutic strategies. Learn how international partnerships and clinician-scientist mentorships are shaping the future of care for children with rare genetic epilepsies.
Talk details & transcript →5 minutes with… Leah Duffy
In this deeply moving talk, Leah Duffy shares her family’s journey through the challenges of Dravet syndrome—one of the developmental and epileptic encephalopathies (DEEs). Leah recounts the terrifying onset of seizures in her daughter Gemma at 10 months old, their struggle through hospitalizations, medication side effects, and constant fear of SUDEP, as well as the incredible turnaround after accessing a new medication.
Talk details & transcript →Single-participant trials for novel epilepsy treatments
Prof Piero Perucca
In this insightful presentation, Prof Piero Perucca explores how N-of-1 clinical trials could revolutionize treatment development for rare genetic epilepsies and neurodevelopmental disorders. He highlights the limitations of conventional randomized controlled trials—especially for rare diseases—and makes the case for personalized, rigorous, single-patient trial designs to test novel and repurposed therapies.
Talk details & transcript →Developing RNA-based therapies for DEEs and an ASO to increase gene expression in SYNGAP
Dr Yuri Maricich (Camp4)
Dr. Maricich shares a groundbreaking update on the development of an antisense oligonucleotide (ASO) therapy for SYNGAP1-related disorders. In this accessible and hopeful presentation, he explains how CAMP4 is using cutting-edge gene regulation science to upregulate expression of the healthy SYNGAP1 allele in patients with haploinsufficiency.
Talk details & transcript →MICE-DEE: a novel behavioural and psychological intervention for families living with DEE
This presentation introduces the MICE-DEE study, a groundbreaking mental health intervention tailored for children and adults with developmental and epileptic encephalopathies (DEEs). Led by researchers at Austin Health and adapted from the original UK MICE trial, this Australian study aims to fill a major gap in mental health care by delivering a parent-focused, telehealth-based psychological intervention.
Talk details & transcript →Models of care for the rare DEEs. Learnings and new resources from our research and the global community
Dr Emma Palmer
Dr. Emma Palmer explores how we can transform care for people with developmental and epileptic encephalopathies (DEEs)—moving beyond diagnosis to deliver holistic, equitable, and compassionate support for families.
Talk details & transcript →5 minutes with… Daniel Aitchison
In this powerful and personal talk, a father shares the emotional journey of his daughter Talia, who lives with KCNA2-related epilepsy and severe autism spectrum disorder. From the shock of her first seizure at 18 months, through ICU stays and genetic testing, to finally receiving a rare diagnosis, this story reflects the resilience and advocacy required of families facing complex neurodevelopmental conditions.
Talk details & transcript →Getting a new medication to patients: Not a piece of cake!
Prof Ingrid Scheffer
Professor Ingrid Scheffer takes us behind the scenes of what it really takes to bring a new epilepsy drug—from early trials to public access—for patients with Dravet syndrome and developmental and epileptic encephalopathies (DEEs). With deep personal and clinical insight, she shares the 10+ year journey of bringing fenfluramine to Australia and introduces a promising new therapy.
Talk details & transcript →