15
Peer-reviewed publications
rare disease, HTA, genomics
9
MRFF-funded grants
5 CI · 4 AI
10
Conferences
8 presentations · 2 posters
Peer-reviewed
Publications register.
Our complete register of peer-reviewed publications, preprints, reports, and conference presentations, listed most recent first. Citations follow APA 7th edition.
2025
Featured
Pierce, K., Murphy, J. B., Robertson, E. G., Khan, J. R., Bullock, S., O’Loughlin, C. B., Loden, M., McIntosh, R., Beavis, E., Roberts, N., Palmer, E. E., & Lingam, R. (2025).
“Just realising that I wasn’t alone… was profound”: A mixed-methods evaluation of a pilot peer-to-peer wellbeing program for carers of children with rare epilepsies.
Orphanet Journal of Rare Diseases, 20.
Kris Pierce, first author
Ewans, L. J., Pierce, K., Farley, E., Bowden, R., Shalhoub, C., & Palmer, E. E. (2025).
I’ve never heard of this! An approach to child and family-centred care for children and young people with rare diseases.
Journal of Paediatrics and Child Health.
Advance online publication
Fisher, L., Stirling, M., Jones, R., Pierce, K., Lingam, R., Marshall, G. M., Hiscock, H., & Dalziel, K. (2025).
Establishing research priorities for children living with chronic health conditions: A value-weighting study by Australian caregivers.
Journal of Paediatrics and Child Health, 61(10), 1646–1654.
Pierce, K., Single, A., Funk, M., & Van Gorp, K. (2025).
OP07 Shared learning: An alternative model for patient capacity development to participate in health technology assessment.
International Journal of Technology Assessment in Health Care, 41(S1), S4.
Conference abstract · Kris Pierce, first author
Accepted
Kelada, L., Best, S., Pierce, K., Allen, M., Cobb, J., Berens, K., Goranitis, I., Palmer, E. E., Scheffer, I. E., & Howell, K. B. (2025).
Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies.
European Journal of Paediatric Neurology.
In press
Truong, L., et al. (2025).
Patient-centric epilepsy clinical trial model for improved health outcomes using cannabidiol (PACIFIC study): A methodology for developing patient-centred clinical trials in rare epilepsy syndromes.
Preprint
Rush, A., Gomez, M., Pierce, K., De Abreu Lourenco, R., Mason, K., Howard, K., Lynch, G., Walker, P., Viney, R., & Watson, J. (2025).
Patient, consumer and societal values, perceptions and preferences on high-cost gene therapies.
Research Square.
Preprint, not yet peer-reviewed
Report
Levine, D. S., Beek, G., Bichell, T. J., Boice, N., Brown, C., Cobb, M., Erler, W., Flesch, M., MacDonnell, K., Martinez-Rubio, C., McBride, A., Pierce, K., Sanandaji, P., Scipione, F., Smith, R., & Son Rigby, C. (2025).
Early and often: Reimagining patient community engagement to improve clinical trials feasibility.
Global Genes.
2024
Conference presentation
Kelada, L., Best, S., Pierce, K., Allen, M., Cobb, J., Berens, K., Goranitis, I., Palmer, E. E., Scheffer, I. E., & Howell, K. B. (2024).
Are health services for patients with severe epilepsy meeting families’ needs? Caregiver priorities for improvement.
38th Annual Conference of the European Health Psychology Society, Cascais, Portugal.
Oral presentation, 3–6 September 2024
Gattrell, W. T., Logullo, P., van Zuuren, E. J., Price, A., Hughes, E. L., et al. (2024).
ACCORD (ACcurate COnsensus Reporting Document): A reporting guideline for consensus methods in biomedicine developed via a modified Delphi.
PLOS Medicine, 21(1), e1004326.
2023
Robertson, E. G., Roberts, N. J., Le Marne, F., Beavis, E., Macintosh, R., Kelada, L., Best, S., Goranitis, I., Pierce, K., Gill, D., Sachdev, R., Bye, A., & Palmer, E. E. (2023).
“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a developmental and epileptic encephalopathy.
European Journal of Paediatric Neurology, 47, 94–104.
Robertson, E. G., Kelada, L., Best, S., Goranitis, I., Pierce, K., CoGENeS Group, Bye, A., & Palmer, E. E. (2023).
Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.
Developmental Medicine & Child Neurology.
2022
Robertson, E. G., Kelada, L., Best, S., Goranitis, I., Grainger, N., Le Marne, F., Pierce, K., Nevin, S. M., Macintosh, R., Beavis, E., Sachdev, R., Bye, A., & Palmer, E. E. (2022).
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol.
BMJ Open, 12, e063249.
McLoone, J., Wakefield, C. E., Marshall, G. M., Pierce, K., Jaffe, A., et al. (2022).
It’s made a really hard situation even more difficult: The impact of COVID-19 on families of children with chronic illness.
PLOS ONE, 17(9), e0273622.
2021
Report
World Health Organization. (2021).
How to plan and conduct telehealth consultations with children and adolescents.
World Health Organization.
Conferences
Conference presentations.
SCN2A Australia has presented at the following conferences and events.
International
- HTAi, Health Technology Assessment International (rare disease and consumer involvement in HTA)
- Global Genes Summit, Rare disease advocacy leadership
- IRDiRC, International Rare Diseases Research Consortium (regulatory convergence task force)
- ARCS 2026, Abstract accepted
Australian
- CHA Leading Thinkers Series, Children's Healthcare Australasia
- Inaugural Paediatric Palliative Care Conference
- GETA Conference, Genetic Epilepsy Team Australia
Podcast & education
SCN2A Insights and the webinar programme.
The SCN2A Insights podcast features conversations with international experts, researchers, and families, translating complex science into accessible knowledge for the SCN2A and DEE community.
SCN2A Australia also delivers a regular webinar programme covering:
- SCN2A genetics, gain vs loss of function explained
- The gene therapy landscape for SCN2A and DEE
- SCN2A and DEE management, and family-centred care
- Consumer engagement in health research
The Consumer Engagement in Health Research module was developed for the University of Melbourne.
Information resources
Downloadable information sheets.
Available covering SCN2A genetics and variant types, gene therapy, genetic testing, and DEE explainers, in multiple languages (English, Korean, Chinese, Hindi, Japanese).