SCN2A Australia began the way so many rare-disease communities do, a handful of families, each feeling alone, who found each other.
Our children were diagnosed with SCN2A-related disorders. In the early days, there was little information, few specialists with real experience, and almost no one who truly understood what our families were living with. So we reached out, connected, and started sharing what we were learning.
What began as informal conversations between parents grew into something more structured. We pooled our knowledge, researched the science, built relationships with international experts, and learned to navigate systems that weren't designed with rare-disease families in mind.
As our community grew, families began turning to us, not just SCN2A families, but those navigating other DEEs and many other rare genetic causes of DEE. The knowledge and networks we had built proved deeply relevant to the broader DEE community.
That foundation of lived experience is still at the heart of everything we do.
From the first families connecting, to a research-enabled ecosystem supporting registries, clinical trials, and precision therapies. Working locally, connecting globally.
SCN2A is recognised internationally as a distinct disorder, and the first Australian families begin to find each other.
The first Australian community infrastructure SCN2A families could turn to, parent-led, and built to last.
At the Florey Institute, Steven Petrou’s Ion Channels and Human Diseases Group builds the Australian centrepiece of SCN2A translational research.
Launched on Australia Day 2019 with a mission to “Work Locally, Connect Globally”, the organisation moves fast to link families to research.
SCN2A Australia builds the scaffolding of a national community, campaigns, conferences and a research registry.
Florey researchers establish the scientific case for taking SCN2A ASO therapy toward the clinic.
Elsunersen becomes the first SCN2A-targeted ASO to reach patients, with direct Australian scientific involvement.
SCN2A Australia sets its formal direction as SCN2A is woven into global genomic-medicine pathways.
New family resources land just as the regulatory pathway for the first SCN2A therapy accelerates.
SCN2A Australia funds its first research project and brings its lived-experience authority to the national DEE conversation.
Our Board provides strategic leadership, ensures financial accountability, and upholds the mission of SCN2A Australia. All board members serve voluntarily.
After a 14-year diagnostic odyssey, Kris's son Will was diagnosed with SCN2A. A Consumer & Patient Engagement Specialist, she has built SCN2A Australia into a nationally recognised advocacy organisation. Appointments include the MSAC Evaluation Sub-Committee, the HTA Consumer Consultative Committee (Deputy Chair), and the Genomics Australia Advisory Council. Victorian Women's Honour Roll 2022 inductee.
Parent of Will, a young adult with a gain-of-function SCN2A mutation. Experienced sleep physician and co-founder of SleepHub. Holds Master's degrees in healthcare management, clinical epidemiology, and drug development, bringing clinical-trials and healthcare-systems expertise to the Board.
Director of a property management company with a career in residential investment portfolio management. Joined the Board after her daughter Eva was diagnosed with SCN2A encephalopathy, bringing operational rigour and the perspective of a parent navigating the Australian health and disability system.
One of the world's foremost authorities on epilepsy genetics. Laureate Professor; NHMRC Practitioner Fellow. Foundational research on Dravet syndrome and SCN1A transformed understanding of genetic epilepsies and directly informs the diagnostic and therapeutic landscape for SCN2A families.
Paediatric neurologist and epileptologist focused on the genetics of childhood epilepsy, including SCN2A-related conditions. Contributor to research on genotype-phenotype correlations in SCN2A.
Clinical geneticist and paediatric neurologist. Co-investigator on multiple SCN2A-related research projects within our network and co-author on the Angel Aid wellbeing evaluation (Orphanet Journal of Rare Diseases, 2025).
Head of the Development and Disability Research Program. Leader in outcome measures and quality-of-life assessments for children with intellectual disability, directly informing how we approach what matters most to families.
Research Group Head investigating molecular and cellular mechanisms underlying genetic epilepsies, including DEE. Uses patient-derived iPSC "brain in a dish" models to evaluate potential therapeutic interventions.
Head of the Genetic Epilepsy Natural History and DEE Research Program. Master of Genetic Counselling. Works at the intersection of deep phenotyping, genetic diagnosis, and direct family engagement.
SCN2A Australia is a registered charity (ACNC). Our board is chaired by a parent of a child with SCN2A and includes clinician, researcher, and consumer representation. We are governed by a publicly available constitution and audited annually.
