Dr (Elizabeth) Emma Palmer is a Clinical Geneticist at Sydney Children’s Hospitals Network (SCHN) and university lecturer at the University of New South Wales, in Sydney Australia. She is passionate about improving the patient journey for all with rare genetic conditions and their families. Her work aims to improve the recognition of the possibility of genetic conditions by improving clinicain education about rare diseases, maximising the diagnostic yield of genetic tests and optimising patient care by linking families to best practice guidelines, treatments and supports. She has over 45 peer reviewed journal articles, including those describing 9 new genetic conditions.
She 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 and
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 many 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.