Associate Professor Elizabeth Palmer
UNIVERSITY OF NEW SOUTH WALES (2014-2019)
PhD conferred November 2019. Application of Massively Parallel Sequencing for the Diagnosis of Developmental and Epileptic Encephalopathies
USW nominee for CSL Florey Next Generation Award (2018); UNSW Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018); Senior Presenter prize, UNSW Paediatric Research week (2018); School of Women and Children’s Health, UNSW Junior Conjoint Award (2018
UNIVERSITY OF OXFORD, EXETER COLLEGE, UK (1995-1999)
1ST BM PRE-CLINICAL MEDICINE.
BA HONS IN PSYCHOLOGY, PHILOSOPHY AND PHYSIOLOGY. CLASS 1.
Scholar of Exeter College, Fitzgerald Prize and Collection Prizes for academic achievements
MBBS ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL, LONDON, UK (1999-2002)
Nominee for the Gold Medal, London Medical Schools.
Distinctions in Medicine, Surgery, Obstetrics and Gynaecology and Clinical Pharmacology and Therapeutics. Subject prizes for achievements in examinations and clinical placements. Boldero, Hart and Dawkins Prize in Paediatrics, Royal College of Paediatrics and Child Health Student Prize Winner, 2nd Philip Seth Belasco and Douglas Cree Prize in Medicine, Horace Jules Prize in Public Health, Bernard Hart Prize in Psychiatry, John Murray Prize in Pharmacology, Joint 2nd Lydell and Leopold Hudson Prize in Surgery, Joint Hetley and Atchison Clinical Prize. Certificates of Merit (1st, 2nd and 3rd Clinical Years) for overall clinical performance
FELLOW OF THE ROYAL AUSTRALASIAN COLLEGE OF PHYSICIANS (CLINICAL GENETICS)(2012)
High Distinction in Unit in Human Genetics (Macquarie University).
DIPLOMA IN TROPICAL MEDICINE AND HYGIENE, LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE, ROYAL COLLEGE OF PHYSICIANS, UK (2006).
The Duncan Prize for best student.
DIPLOMA FROM THE ROYAL AUSTRALIAN AND NEW ZEALAND COLLEGE OF OBSTETRICIANS AND GYNAECOLOGISTS (2005).
Award for Outstanding Achievement, DRANZCOG oral examination.
MEMBERSHIP OF THE ROYAL COLLEGE OF PAEDIATRICS AND CHILD HEALTH, UK (2005)
ASSOCIATE FELLOW OF THE HIGHER EDUCATION ACADEMY, UK (2021)
Emma is an Associate Clinical Professor at UNSW Sydney and a Clinical Geneticist at Sydney Children’s Hospitals Network. She holds an NHMRC Investigator Grant. Her research is shaped directly by the families she sees in clinic — and the findings go straight back into improving their care.
She leads RarePOWER, a research group focused on improving the journey for the 2 million Australians and 300 million people globally living with a rare disease. Simply put, rare diseases are the biggest killer of children in developed countries — over 60% of childhood deaths involve an underlying rare condition. Her team works across three areas: getting people a genetic diagnosis faster, building fairer models of care, and co-designing support with the communities who need it most. She is part of Rare Diseases NSW, the state hub for rare disease research, clinical care, education, and advocacy and co-leads the inclusive research group GeneEQUAL with Professor Iva Strnadova and Julie Loblinzk Refalo OAM and the genomic clinical research program Gene2Care.
Emma’s PhD showed that new genomic technologies could transform diagnosis for children with severe genetic epilepsies — improving diagnostic rates from less than 5% to over 75%. Since then, her work has expanded to tackle the whole rare disease experience: from genomic discovery, through national policy change, to psychosocial support for families. She doesn’t just research about people with rare conditions — she researches with them, with co-leadership, co-design, and co-production embedded across all her programs.
Internationally, Emma was appointed an expert for the World Health Organization on strengthening healthcare services for rare diseases, and Co-Chair of the Diagnostic Working Group for the Undiagnosed Disease Network International, coordinating efforts across 29 countries. At state level, she co-chairs the Translation, Service Delivery and Workforce Development Committee for NSW Ministry of Health Genomics.
Emma has over 130 peer-reviewed publications (including in Nature, Nature Genetics, and Cell), with more than 5,100 citations and an H-index of 41 (google scholar). She has attracted over $31 million in competitive funding across 19 research programs.
- Publications
- Grants
- Awards
- Research Activities
- Engagement
- Teaching and Supervision
- Media
Current Grants — Programs Led as Chief Investigator
- 2025: MRFF Genomics Health Futures Mission: “Diagnosis4All: Equitable Pathways to Rare Disease Diagnosis for Priority Populations” ($981,847, 2025–2027) CIA
- 2025: SPHERE “My Rare Mate: Digital Peer Support for People with Rare Diseases in NSW” ($200K, 2025–) CIA
- 2022: NHMRC: “GeneEQUAL: Equitable and Accessible Genomic Healthcare for People with Intellectual Disability” ($1.6M, 2023–2028) CIA
- 2022-2026: NSW Health : “GeneEQUAL Point-of-Care Resources” ($600K, 2022–2025) CIA
- 2021: Australian Government: “RArEST: Rare Disease Awareness, Education, Support and Training” ($1.9M + $600K extension, 2021–2027) PI
- 2021: NHMRC Investigator Grant: “Gene2Care: Integrated Genomic Diagnosis, Care and Research” ($390K, 2021–ongoing) CIA
- 2021–: Mixed funding (NHMRC CRE, SPHERE, philanthropy): “CoGENES: Collaborative Genomics for Neurological and Epileptic Syndromes at SCHN”
Current Grants — Co-/Chief Investigator
- 2025: MRFF : “My Health Choices My Way: Co-designing Supported Decision Making in Genomic Healthcare for Adults with Intellectual Disability” ($2M, 2025–2030) CIB
- 2023: MRFF: “UDN-Aus: Undiagnosed Disease Network Australia” ($3M, 2021–) CI, Clinical Group Co-lead
- 2024: MRFF: “NurtureNextGen: Digital Tool for Families of Children with Genetic Neurodevelopmental Conditions” ($598K, 2024–) CI
- 2024: MRFF: “Integrated Genetic HealthCare: Access to Genetic Services for Aboriginal and Torres Strait Islander Patients” ($1.9M, 2024–) CI
- 2023: Australian Government DOHAC: “Rare and Complex Disease Telehealth Nurse Program” ($2.48M, 2023–) SCHN Site Lead
- 2021: NHMRC CRE: “Centre for Research Excellence in Developmental and Epileptic Encephalopathies (CRE DEER)” ($2.5M, 2021–) CIC
- 2023: MRFF: “National Long-Read Genome Sequencing for Undiagnosed Rare Diseases” ($2.9M, 2023–) CI
- 2021: MRFF: “High Throughput Functional Genomics Assays for Ion Channelopathies” ($2.8M, 2021–) CI
- 2021: MRFF: “Australian Functional Genomics Network (AFGN)” ($6M, 2021–) CI
Recent/Completed Grants
- 2020: Philanthropic: “GeneCOMPASS: Knowledge-to-Action Program for Neurogenetic Personalised Medicine” ($330K) CIA
- 2020: Australian Epilepsy Research Fund: “Preparing Australia for Precision Medicine in the DEEs” ($686,537) CIC
- 2017: SPHERE: “CoGENES Project Officer: Improving Care for Children with Severe Early-Onset Epilepsies” ($17K) CIA
- 2016: NSW Office of Health and Medical Research: “Drug Resistant Childhood Onset Epilepsy: Leveraging Genomic Sequencing” ($180K) CIC
- 2016: NHMRC Postgraduate PhD Scholarship: “Application of Next Generation Sequencing for Diagnosis of Epileptic Encephalopathy” ($127K) CIA
Recent awards:
- People’s Choice Award — Consumer Partnerships in Research Awards, CPIR2025 (AccessCR, August 2025), for the GeneEQUAL program
- Sutherland Lecture — Human Genetics Society of Australasia (HGSA) 2025 conference, recognising outstanding mid-career genetic researchers
- J. Moss Trophy for outstanding work in the field of intellectual disability (Self Advocacy Sydney, 2023)
Selected earlier awards:
- UNSW Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018)
- UNSW nominee for CSL Florey Next Generation Award (2018)
- The Duncan Prize for best student, Diploma in Tropical Medicine and Hygiene (2006)
- Nominee for the Gold Medal, London Medical Schools
- Scholar of Exeter College, University of Oxford; Fitzgerald Prize
Key research programs include
- GeneEQUAL (making genomic healthcare inclusive, respectful and person-centered for people with intellectual disability),
- RArEST (codesigning national resources including Australia’s first National Recommendations for Rare Disease Health Care — endorsed by 11 professional bodies and launched in Federal Parliament),
- Gene2Care (a collaborative diagnostic and data sharing hub at Sydney Children’s Hospital supporting over 560 families),
- Diagnosis4All (equitable diagnostic pathways for priority populations),
- My Health Choices My Way (supported decision-making for adults with intellectual disability), and
- CoGENES (rare genetic epilepsies).
Emma is on the following patient advocacy and rare disease scientific advisory boards:
- Rare Voices Australia (Medical and Scientific Advisor, national peak body, since 2022)
- CureCLCN4 (since 2019)
- SCN2A Australia (since 2025)
- SATB2 Connect (since 2022)
- ReNU syndrome Foundation (since 2025)
Community and family engagement:
We put families first in all our research and are guided by consumer (family) reference groups across all our programs. In February 2025, we convened Australia’s first disease-agnostic rare disease events through Rare Diseases NSW — bringing together 320 people with rare conditions, families, clinicians and researchers. The events received national coverage on Sunrise and were opened by Dr Kim Sutherland, Head of NSW Health’s Office for Medical Research, who subsequently announced rare diseases as a priority for NSW Health.
Through CoGENES we are co-designed resources directly informed by families of children with genetic epilepsy:
- Information for families on genetic testing
- Finding a Way — a set of positive psychology video resources for parents of children with developmental and epileptic encephalopathies
- SIBS-ONLINE — a pilot online program for siblings and parents of children with DEEs
Policy and government:
- Launched Australia’s first National Recommendations for Rare Disease Health Care in Federal Parliament (February 2024)
- Representative at Parliamentary Friends of Rare Diseases (2022–2026)
- Co-chair, NSW Ministry of Health Genomics — Translation, Service Delivery and Workforce Development Committee (2024–present)
- Expert, WHO Taskforce on Strengthening Healthcare Services for Rare Disease (2023–present); member, Rare Diseases International Asia-Pacific Taskforce (2026–)
Editorial roles:
- Editor, international journal Rare (since 2022)
- Editorial Board, Journal of Precision Medicine and Springer Nature Scientific Reports (since 2025)
- Reviewer for NHMRC, Wellcome Trust, Swiss National Science Foundation, Health Research Board Ireland, and journals including Lancet Neurology, NPJ Genomic Medicine, EJHG, Neurology, Genetics in Medicine, Epilepsia
Media and podcasts:
- ABC Nightlife: “Uncommon Syndromes and Rare Diseases” — nationwide broadcast
- Channel 7 Sunrise — national coverage of Rare Diseases NSW events (February 2025)
- The Conversation: article on GeneEQUAL program (15,000+ readers in first month, republished by multiple outlets)
- Profiled by NSW Health and Medical Research and UNSW Newsroom
- Articles and podcasts: HealthEd, MJA Insight, Medicine Today, SCN2A podcast, Epilepsy Sparks podcast
- Webinars with the European Society of Human Genetics, Disability Innovation Institute, and the National Centre for Excellence for Intellectual Disability
My Research Supervision
Emma has supervised 1 PhD, 7 Masters, and 8 Honours students to completion, and currently supervises 4 PhD, 1 MPhil, and 1 ILP student. Her mentees have received multiple awards, including Best HDR Presentation (HGSA 2023), Most Socially Impactful HDR Prize (2023), and the 2nd best article of the year in BMJ Quality and Safety. Five of eight Honours students achieved High Distinction.
My Teaching
Emma's teaching sits at the intersection of genomic science and health equity, with a focus on preparing healthcare professionals to deliver person-centred, inclusive care for people with rare conditions.
She co-leads the UNSW Short Course in Practical Medical Genomics, which has trained over 150 health and science professionals across six iterations, with NSW Health sponsoring participant places. Pre-post evaluation shows statistically significant improvements in participants' confidence and capability to integrate genomics into clinical practice, and the course's success led NSW Health to commission a bespoke extension course in Integrated Genetic Health Care Delivery.
Through the GeneEQUAL program, Emma co-led the development of an educational toolkit for inclusive genetic healthcare, co-produced with people with intellectual disability as co-educators. The toolkit has been viewed over 13,000 times across 70+ countries since its 2023 launch, with 85% of surveyed users reporting improved confidence in providing inclusive care.
Emma pioneered disease-agnostic rare disease education for Australian healthcare professionals through the RArEST program, including the RACGP-accredited Rare Disease 101 Australia eLearning module and the Rare Disease Project ECHO series. She also established the National Epilepsy Variant Multidisciplinary Community of Practice, improving clinicians' confidence in variant interpretation.
Within UNSW, Emma created the first disease-agnostic rare disease content in the undergraduate medical curriculum, reaching over 280 students annually. Her teaching integrates lived expertise perspectives for example through innovative video resources developed with young people living with rare conditions. She has received consistently strong student evaluations (98–100% agreement on teaching quality) across three consecutive years.
Emma is a sought-after educator nationally and internationally, with invitations to teach at the RACP, RCPA, and RACGP, as well as at conferences and institutions in the USA, UK, India, Turkey, Nepal, and Vietnam.
Her teaching philosophy draws on the COM-B model of behaviour change, focusing on shifting not just competency but motivation — working alongside learners, embedding lived expertise, and building in rigorous evaluation to drive lasting practice change.