Elizabeth Emma Palmer

Emma is a senior clinical lecturer and holds a research fellowship (Investigator Grant) from the NHMRC (National Health and Medical Research Council). Her work as a Clinical Geneticist, seeing families with rare genetic conditions at Sydney Children’s Hospital, informs her research, which aims to improve the patient journey for the 2 million Australians and 300 million people globally with a rare disease. This video highlights one of those projects with a NSW family.

There are over 7,000 individually rare diseases, most of which have an underlying genetic cause, and start in childhood. The recent Australian Government National Strategic Action Plan for Rare Disease highlighted shared challenges including lack of awareness of rare disease, the struggle for a timely and accurate diagnosis, limited care and support options, a lack of research and poor data collection and use. Rare diseases typically affect multiple organ systems and are challenging for health professionals to diagnose and manage independently due to their rarity and complexity, and lack of sufficient clinician education. Although each individual genetic condition is rare (defined as affecting less than 5 in 10,000 people) the collective impact on Australians health and wellbeing is substantial. Simply put rare diseases are the biggest killer of kids. In developed countries, such as Australia, >60% of childhood deaths are of children who have an underlying rare disease. A third of all children with a rare genetic condition die before reaching their fifth birthday.

Emma’s PhD research looked at how new genetic technologies (exome and whole genome sequencing) can revolutionise the diagnosis of a group of rare diseases, the developmental and epileptic encephalopathies, which are early-onset life-threatening epilepsies. She discovered 7 new genetic conditions, and her research improved the genetic diagnosis for kids at SCHN with this group of conditions from less than 5% to over 75%.

Since her PhD she has broadened her research to not only understand how to better diagnosis all rare genetic conditions, but also how to improve the whole journey for children with rare diseases and their parents, and revolutionise care to that which is equitable, evidence-based and accessible for all. She is a leader in clinical undiagnosed disease programs in NSW, nationally and internationally (GeneAdd, UDNAus- the Undiagnosed Disease Network Australia, and UDNI – the Undiagnosed Disease Network International). She leads a national government funded program called RArEST (Rare Disease Education Support and Training) aiming to support clinicians across Australia better diagnose and support children and families with rare diseases. She also leads an inclusive research group GeneEQUAL which has taken an innovative approach to improving accessibility of genetic testing and care for people with intellectual disability, by co-designing accessible resources in partnership with people with intellectual disability. At Sydney Children’s Hospitals Network she has helped develop the program Gene2Care which aims to put every child with a rare disease in the best possible position for a rapid genetic diagnosis and access to best support and care. She also leads a hospital-based research program for rare neurogenetic conditions at SCHN called CoGENES and co-leads a national genetic epilepsy program called the DEER program.

She also is passionate about global health care and is an advisor on a World Health Organization taskforce to strengthen health services internationally to provide rare disease care. She co-leads the Undiagnosed Disease Network International Diagnostic Working Group, which supports clinicians in developing countries to help their patients access genetic diagnosis and provides educational support to those clinicians. She has authored over 85 peer-reviewed medical publications, which have been cited over 1,200 times in the global medical literature.

Grants:
2022: NHMRC GeneEQUAL CIA ($1.6 million)

2022: MRFF funding Genomics Health Futures Misison Grant CI $3 million

2021: NMHRC Investigator Grant Gene2Care: a comprehensive program of research to revolutionise care for children with rare genetic conditions $390,444 CIA

2021: NHMRC CRE Natural history studies for Developmental and Epileptic Encephalopathies (CIC)

2021: Department of Health Funding “RArEST” Rare disease Awareness, Education, Support and Training ($1.9 million) CIA

2021: Ministry of Health Funding “GeneEQUAL: genomic education for people with intellectual disability ($120,000) CIA

2021: MRFF funding. Undiagnosed Disease Network Australia. (3 million) CI

2021: MRFF funding: The Australian Functional Genomics Network (6 million) CI

2020: Philanthropic Funding “GeneCOMPASS: a Knowledge-to-Action program linking families and clinicians with world-class neurogenetic personalised medicine information. ($330,000) CIA

2020: Australian Epilepsy Research Fund “Preparing Australia for Precision Medicine in the Developmental and Epileptic Encephalopathies” ($686,537) CIC

2017: SPHERE funding for CoGENES project Officer “Improving Clinical Care and Support for Children with Severe Early-Onset Epilepsies and Their Families.” ($17,000). CIA

2016: Office of Health and Medical Research Grant. Drug resistant childhood onset epilepsy with intellectual disability: leveraging genomic sequencing to identify novel genes and neurodevelopmental pathways and determine optimal diagnostic protocols: “Drug resistant childhood onset epilepsy with intellectual disability: leveraging genomic sequencing to identify novel genes and neurodevelopmental pathways and determine optimal diagnostic protocols” ($180,000). CIC

2016: NHMRC Postgraduate PhD Scholarship Grant Supervisors Edwin Kirk and Annie Bye. “Application of Next Generation Sequencing for the Diagnosis of Epileptic Encephalopathy – the science, the costings and the impact.” ($127,000) CIA

Qualifications:

​​​​​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)

Recent awards include:

UNSW nominee for CSL Florey Next Generation Award (2018)
UNSW Medicine Award for Outstanding Contribution to Research by a Higher Degree Student (2018)
School of Women and Children’s Health, UNSW Junior Conjoint Award (2018)
Senior Presenter prize, UNSW Paediatric Research week (2008)

My Research Activities
Emma leads the following collaborative research programs:

1. Gene2Care, an innovative rare genetic disease program at SCHN, to ensure all families with genetic conditions have the option of participating in research and being linked to undiagnosed disease pathways and clinical trials.

2. GeneEQUAL a co-design project to improve equity and accessibility of genomic testing and counselling to people with intellectual disabilities. Find out more at www.GeneEQUAL.com

3. CoGENES an interdisciplinary research team improving diagnoses, support and treatments for children with rare genetic epilepsies and their families, and

4. RArEST a collaborative project to improve awareness, education, training and support for rare disease across Australia.

She is also a chief investigator on several national and international rare disease programs including the newly launched national undiagnosed disease program UDN-Aus, the Australian Functional Genomic Network and the Diagnostic Working Group of the Undiagnosed Disease Network International.

She strives to ensure that the patient and family voice is always central to all her research.