Dr Emma Palmer

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 clinician 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. Dr Palmer has over 50 peer reviewed journal articles, including those describing 9 new genetic conditions.

Dr Palmer 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.