This page is a research page. For clinical information, please view our clinical genetics service page on the Sydney Children's Hospitals Network website.

Impact

• We developed the Gene2Care research integrated model of care to support research pathways for individuals and families living with a diagnosed or suspected rare genetic condition. It incorporates the GeneSTART rare disease registry and the GeneAdd undiagnosed disease program.
• We lead and participate in a range of multidisciplinary research-enabled clinics for rare genetic conditions like tuberous sclerosis, Angelman syndrome and Kleefstra syndrome, pioneering novel approaches for wrap around care.
• As part of our collaboration with the national Developmental and Epileptic Encephalopathy Research (DEER) Consortium, we have led work into both the optimal diagnostic pathway and support for children and families with complex early-onset epilepsies.
• As part of our collaboration with the UNSW Medical Genomics Group, we offer research pathways for children with suspected rare neuromuscular conditions.
• We are supporting the development of novel approaches to improve diagnoses for children with suspected rare genetic conditions as the lead clinical site for the Undiagnosed Disease Network Australia initiative.
• We lead a pilot telehealth nurse program aiming to improve equity of access and service management for those living with a rare disease (Navigator Project).
• We are a lead site investigating the best way to deliver a national reproductive genetic carrier screening program available to all couples in Australia (Mackenzie’s Mission project).
• In collaboration with Rare Diseases NSW, we have led and developed educational programs for health professionals about genomics and rare disease.