Dr Elizabeth Emma Palmer (PHD, FRACP, MBBS, BA (HONS I OXON), DIP. RANZCOG, DIP. TROP. MED. & HYG. (RCP), MRCPCH, AFHEA) is an early-mid career clinician scientist at Sydney Children’s Hospital Network (SCHN) and the University of New South Wales (UNSW).  

Emma Palmer 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 Hospitals Network (SCHN), informs her research, which aims to improve the patient journey for the 2 million Australians and 300 million people globally with a rare disease.  She has over 100 peer reviewed articles on rare and genetic diseases. 

She is on the medical and scientific advisory board for the national peak body for Australians living with a rare disease, Rare Voices Australia, and led 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: as such she was the lead author of Australia’s first National Recommendations for Rare Disease Health Care, launched in Federal Parliament on the 29th February 2024.  

She co-leads a program of research Gene2Care at SCHN incorporating a rare disease registry (GeneSTART) and Undiagnosed disease program (GeneAdd). She co-leads the clinical committee of the Undiagnosed Disease Network Australia (UDN Aus) and is co-chair for the diagnostic working group of the Undiagnosed Disease Network International (UDNI)- applying genomic research to shorten the diagnostic odyssey. As part of this work she has led the discovery of 7 new genetic conditions. 

She also co-leads an inclusive research group GeneEQUAL(CIA) 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.