Researcher

Dr Elizabeth Emma Palmer

My Expertise

Genetics

Genomics

Targeted therapies

Autism

Intellectual disability

Epilepsy

Genetic education 

Rare Disease

Keywords

Biography

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Principal Investigator: Gene2Care: A program of research across Sydney Children's Hospitals Network to revolutionise diagnosis, support and management for children with Rare Diseases. 

Group Leader Translational Clinical Research Group:  CoGENES: Collaboration on Genetic Epilepsies and Neurogenetics, Sydney Children's Hospital:  Ensuring children born with brain disorders get the best treatments and supports to enable them and their...view more

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Principal Investigator: Gene2Care: A program of research across Sydney Children's Hospitals Network to revolutionise diagnosis, support and management for children with Rare Diseases. 

Group Leader Translational Clinical Research Group:  CoGENES: Collaboration on Genetic Epilepsies and Neurogenetics, Sydney Children's Hospital:  Ensuring children born with brain disorders get the best treatments and supports to enable them and their families to live happy and fulfilled lives

Bio: I am a paediatrician and Clinical Geneticist (Sydney Children's Hospitals Network) and Clinical Lecturer, School of Women's and Children's Health, University of New South Wales, and mother. My research passions are how to improve the health outcomes and quality of life for children and adults affected by rare genetic disorders and understand and meet the information and support needs of their families.

Where we have come from: My doctoral thesis showed that the new genetic diagnostic technique of exome sequencing resulted in improved cost-effectiveness of the diagnosis of developmental epileptic encephalopathies, and that whole genome sequencing could further improve diagnostic yield to over 70% (Neurology, 2021).  Our research directly led to the identification of 5 novel causes of epilepsy: variants in PUM1 (Cell), KCNT2 (Cell Reports), ATN1 (American Journal of Human Genetics), RLIM duplication (American Journal of Human Genetics) and ARV1 (Human Molecular Genetics), and contributed to the delineation of many other novel neurocognitive disorders.

What we are doing: We are building interdisciplinary research projects, with patient and parent participation at the centre, in order to continue to find diagnoses for children with suspected genetic disorders and  translate a genetic diagnosis into the best possible management and support for that child and their family.


My Grants

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: 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

 

2016: NSW Genomics Collaborative Grant: “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

 

 


My 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)

 


My Awards

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

My research goals all have the patient and family voice at their core and apply codesign and inclusive research methdology.  

Theme 1: How to acheive genetic diagnoses  in the most equitable, acceptable and cost effective manner.

Theme 2: How to best leverage a genetic diagnosis to improve the life long model of care for individuals with rare conditions. 

Theme 3: How to deliver integrated holistic care that undestands and responds to the mental health, psychosocial, economic and information needs of families and carers of individuals with rare genetic conditions

Theme 4: How to build and deliver appropriate and respectful genomic services for priority populations including individuals with learning disabilities, from Aboriginal and Torres Strait Islander communities, from regional and rural communities and those who have culturally and linguistically diverse backgrounds and socio-economic disadvantage. 

 


My Research Supervision


Supervision keywords


Areas of supervision

genomics, genetics, intellectual disability, epilepsy, autism


Currently supervising

2019-2021: Supervisory board member for PhD Student, Suzanne Nevin, University of New South Wales. “Co-development of education and support resources for families with severe early-onset epilepsy”.

2021: Co-supervisor for ILP student, UNSW

2021: Co-supervisor for ILP student, UNSW

2021: Co-supervisor for Honours student, UNSW

2020: Primary Supervisor for Master’s Student: Ella Ward, University of Technology Masters of Genetic Counselling Course. “Co-design of a Family Day for Genetic Epilepsy”

2020: Primary Supervisor for Master’s Student: Jordan Wood, University of Technology Masters of Genetic Counselling Course. “Scoping Review of Individual and Parental Preferences for a Personalised Medicine Program for Rare Paediatric Genetic Disorders”


My Engagement

COGENES Improving Clinical Care and Support for Children with Severe Early-Onset Epilepsies and Their Families.

  • Qualitative study: The Information Needs Of Parents Of Children With A Genetic, Or Suspected Genetic, Form Of Epilepsy (HREC/SCHN). Collaborator Professor Claire Wakefield, UNSW. This qualitative study is asking parents of children with genetic epilepsy about their information and support needs to inform the development of multimedia information resources for families and doctors of children with a genetic epilepsy, through the PENNSW website. http://www.pennsw.com.au/
  • Coordinator: Inaugural NSW Sydney Children’s Hospital Genetic Epilepsy Family Day (October 2018).
  • Speaker: Genetic Epilepsy Team Australia Family conference (2019) and invited participant in round table discussion, Epilepsy Foundation, Victoria (2019)
  • Podcast interviewee: GETA/ SCN2A Alliance (a support group for genetic epilepsy) “Ask the Geneticist” October 2019
  • The CoGenes group is establishing a Community Reference Board for our research.

Moderator for 8 genetic causes of ID/ASD on the Human Disease Gene and GenIDA Websites

http://humandiseasegenes.nl  https://genida.unistra.fr/  (SCN2A, ZSWIM6, THOC2, ATN1, IQSEC2, PUM1, PCHDH19, KCNT2).

Podcast on genetic testing in epilepsyhttps://scn2aaustralia.org/podcast-8/  

 

 


My Teaching

Lecturer for UNSW Medicine (Phase 1 and Phase 3); University of Sydney Masters of Genomic Medicine; RACP Fellowship for Clinical Genetics; University of Sydney Masters of Genetic Counselling. Lead Convenor UNSW Short Course Genomics for the Practicing Clinician

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Location

Room 810, Level 8, The Bright Alliance Building,
UNSW SYDNEY NSW 2052 AUSTRALIA


Map reference

Videos

n the second part of the podcast, Dr. Stacey Clardy talks with Dr. Elizabeth Emma Palmer about genetic testing in epileptic encephalopathy. Access resources for clinicians and families with information on when to consider genetic testing for epilepsy, what tests are available, and what their advantages or limitations may be.
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Genetic epilepsy team australia conference presentation on genetic testing for epilepsy
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Podcast on genetic testing for SCN2A and other genetic epilepsies
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Podcast on genetic testing for Neurology
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Deciphering a genetic test report