Group Leader Translational Clinical Research Group: CoGENES: Ensuring children born with brain disorders get the best treatments and supports to enable them and their...view more
Group Leader Translational Clinical Research Group: CoGENES: 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.
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.
2021: Ministry of Health, NSW, Funding "GeneEQUALGenomics education inclusive of people with Intellectual Disability:NSW Ministry of Health ($110,231.89) Coordinating PI
2020: Philanthropic Funding “GeneCOMPASS: a Knowledge-to-Action program linking families and clinicians with world-class neurogenetic personalised medicine information. ($330,000) CIA
2020: Luminesce Alliance Funding "Gene2Care: A program of research across Sydney Children's Hospitals Network to revolutionise diagnosis, support and management for children with Rare Diseases. Coordinating PI
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
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)
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 Supervision
Areas of supervision
genomics, genetics, intellectual disability, epilepsy, autism
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”
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
Podcast on genetic testing in epilepsy: https://scn2aaustralia.org/podcast-8/
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