Associate Professor Elizabeth Palmer
鈥嬧嬧嬧嬧婾NIVERSITY 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); 91色情片 Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018); Senior Presenter prize, 91色情片 Paediatric Research week (2018); School of Women and Children鈥檚 Health, 91色情片 Junior Conjoint Award (2018
UNIVERSITY OF OXFORD, EXETER COLLEGE, UK (1995-1999)
1ST BM PRE-CLINICAL MEDICINE.听
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.听
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听听听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听(2021)
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Emma is an Associate Clinical Professor at 91色情片 Sydney and a Clinical Geneticist at Sydney Children鈥檚 Hospitals Network. She holds an NHMRC Investigator Grant. Her research is shaped directly by the families she sees in clinic 鈥 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 鈥 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.听She is part of听, 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听and the genomic clinical research program .听
Emma鈥檚 PhD showed that new genomic technologies could transform diagnosis for children with severe genetic epilepsies 鈥 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鈥檛 just research about people with rare conditions 鈥 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 鈥 Programs Led as Chief Investigator
- 2025: MRFF Genomics Health Futures Mission: 鈥淒iagnosis4All: Equitable Pathways to Rare Disease Diagnosis for Priority Populations鈥 ($981,847, 2025鈥2027) CIA
- 2025: SPHERE 听鈥淢y Rare Mate: Digital Peer Support for People with Rare Diseases in NSW鈥 ($200K, 2025鈥) CIA
- 2022: NHMRC: 鈥淕eneEQUAL: Equitable and Accessible Genomic Healthcare for People with Intellectual Disability鈥 ($1.6M, 2023鈥2028) CIA
- 2022-2026: NSW Health : 鈥淕eneEQUAL Point-of-Care Resources鈥 ($600K, 2022鈥2025) CIA
- 2021: Australian Government: 鈥淩ArEST: Rare Disease Awareness, Education, Support and Training鈥 ($1.9M + $600K extension, 2021鈥2027) PI
- 2021: NHMRC Investigator Grant: 鈥淕ene2Care: Integrated Genomic Diagnosis, Care and Research鈥 ($390K, 2021鈥搊ngoing) CIA
- 2021鈥: Mixed funding (NHMRC CRE, SPHERE, philanthropy): 鈥淐oGENES: Collaborative Genomics for Neurological and Epileptic Syndromes at SCHN鈥 听
Current Grants 鈥 Co-/Chief Investigator
- 2025: MRFF : 鈥淢y Health Choices My Way: Co-designing Supported Decision Making in Genomic Healthcare for Adults with Intellectual Disability鈥 ($2M, 2025鈥2030) CIB
- 2023: MRFF: 鈥淯DN-Aus: Undiagnosed Disease Network Australia鈥 ($3M, 2021鈥) CI, Clinical Group Co-lead
- 2024: MRFF: 鈥淣urtureNextGen: Digital Tool for Families of Children with Genetic Neurodevelopmental Conditions鈥 ($598K, 2024鈥) CI
- 2024: MRFF: 鈥淚ntegrated Genetic HealthCare: Access to Genetic Services for Aboriginal and Torres Strait Islander Patients鈥 ($1.9M, 2024鈥) CI
- 2023: Australian Government DOHAC: 鈥淩are and Complex Disease Telehealth Nurse Program鈥 ($2.48M, 2023鈥) SCHN Site Lead
- 2021: NHMRC CRE: 鈥淐entre for Research Excellence in Developmental and Epileptic Encephalopathies (CRE DEER)鈥 ($2.5M, 2021鈥) CIC
- 2023: MRFF: 鈥淣ational Long-Read Genome Sequencing for Undiagnosed Rare Diseases鈥 ($2.9M, 2023鈥) CI
- 2021: MRFF: 鈥淗igh Throughput Functional Genomics Assays for Ion Channelopathies鈥 ($2.8M, 2021鈥) CI
- 2021: MRFF: 鈥淎ustralian Functional Genomics Network (AFGN)鈥 ($6M, 2021鈥) CI
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Recent/Completed Grants
- 2020: Philanthropic: 鈥淕eneCOMPASS: Knowledge-to-Action Program for Neurogenetic Personalised Medicine鈥 ($330K) CIA
- 2020: Australian Epilepsy Research Fund: 鈥淧reparing Australia for Precision Medicine in the DEEs鈥 ($686,537) CIC
- 2017: SPHERE: 鈥淐oGENES Project Officer: Improving Care for Children with Severe Early-Onset Epilepsies鈥 ($17K) CIA
- 2016: NSW Office of Health and Medical Research: 鈥淒rug Resistant Childhood Onset Epilepsy: Leveraging Genomic Sequencing鈥 ($180K) CIC
- 2016: NHMRC Postgraduate PhD Scholarship: 鈥淎pplication of Next Generation Sequencing for Diagnosis of Epileptic Encephalopathy鈥 ($127K) CIA
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Recent awards:
- People鈥檚 Choice Award 鈥 Consumer Partnerships in Research Awards, CPIR2025 (AccessCR, August 2025), for the GeneEQUAL program
- Sutherland Lecture 鈥 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)
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Selected earlier awards:
- 91色情片 Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018)
- 91色情片 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
- (making genomic healthcare inclusive, respectful and person-centered for people with intellectual disability),
- (codesigning national resources including Australia鈥檚 first 鈥 endorsed by 11 professional bodies and launched in Federal Parliament),
- (a collaborative diagnostic and data sharing hub at Sydney Children鈥檚 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).
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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鈥檚 first disease-agnostic rare disease events through Rare Diseases NSW 鈥 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鈥檚 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 鈥 a set of positive psychology video resources for parents of children with developmental and epileptic encephalopathies
- SIBS-ONLINE 鈥 a pilot online program for siblings and parents of children with DEEs听
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Policy and government:
- Launched Australia鈥檚 first National Recommendations for Rare Disease Health Care in Federal Parliament (February 2024)
- Representative at Parliamentary Friends of Rare Diseases (2022鈥2026)
- Co-chair, NSW Ministry of Health Genomics 鈥 Translation, Service Delivery and Workforce Development Committee (2024鈥損resent)
- Expert, WHO Taskforce on Strengthening Healthcare Services for Rare Disease (2023鈥損resent); member, Rare Diseases International Asia-Pacific Taskforce (2026鈥)
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: 鈥淯ncommon Syndromes and Rare Diseases鈥 鈥 nationwide broadcast
- Channel 7 Sunrise 鈥 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 91色情片 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
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My Research Supervision
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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.
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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 91色情片 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 91色情片, 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鈥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 鈥 working alongside learners, embedding lived expertise, and building in rigorous evaluation to drive lasting practice change.