���������¼�

Emma 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 Hospital, informs her research, which aims to improve the patient journey for the 2 million Australians and 300 million people globally with a rare disease. highlights one of those projects with a NSW family.

There are over 7,000 individually rare diseases, most of which have an underlying genetic cause, and start in childhood. The recent Australian Government National Strategic Action Plan for Rare Disease highlighted shared challenges including lack of awareness of rare disease, the struggle for a timely and accurate diagnosis, limited care and support options, a lack of research and poor data collection and use. Rare diseases typically affect multiple organ systems and are challenging for health professionals to diagnose and manage independently due to their rarity and complexity, and lack of sufficient clinician education. Although each individual genetic condition is rare (defined as affecting less than 5 in 10,000 people) the collective impact on Australians health and wellbeing is substantial. Simply put rare diseases are the biggest killer of kids.�� In developed countries, such as Australia, >60% of childhood deaths are of children who have an underlying rare disease. A third of all children with a rare genetic condition die before reaching their fifth birthday.

Emma’s PhD research looked at how new genetic technologies (exome and whole genome sequencing) can revolutionise the diagnosis of a group of rare diseases, the developmental and epileptic encephalopathies, which are early-onset life-threatening epilepsies. She discovered 7 new genetic conditions, and her research improved the genetic diagnosis for kids at SCHN with this group of conditions from less than 5% to over 75%.

Since her PhD she has broadened her research to not only understand how to better diagnosis all rare genetic conditions, but also how to improve the whole journey for children with rare diseases and their parents, and revolutionise care to that which is equitable, evidence-based and accessible for all. She is a leader in clinical undiagnosed disease programs in NSW, nationally and internationally (GeneAdd, UDNAus- the Undiagnosed Disease Network Australia, and UDNI – the Undiagnosed Disease Network International). She recently 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 and launched Australia's first National Recommendations for Rare Disease Health Care in federal parliament in Febriary 2024.. She also leads an inclusive research group GeneEQUAL 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. At Sydney Children’s Hospitals Network she has helped develop the program Gene2Care which aims to put every child with a rare disease in the best possible position for a rapid genetic diagnosis and access to best support and care. She also leads a hospital-based research program for rare neurogenetic conditions at SCHN called CoGENES and co-leads a national genetic epilepsy program called the DEER program (NHMRC Centre of Research Excellence).��

She also is passionate about equitable global health care and is an advisor on a World Health Organization taskforce to strengthen health services internationally to provide rare disease care. She co-leads the Undiagnosed Disease Network International Diagnostic Working Group, which supports clinicians in developing countries to help their patients access genetic diagnosis and provides educational support to those clinicians. She has authored over 110 peer-reviewed medical publications, which have been cited over 2,900 times in the global medical literature.

��