IRD Patient and Family Day 2024 | Current and future diagnosis and management of IRDs

On 23 March 2024, the Inherited Retinal Disease Patient & Family Engagement Day was hosted in Sydney, Australia. This event was proudly co-hosted by UNSW Medicine & Health (Discipline of Paediatrics) and the Stem Cell Medicine Group at Children’s Medical Research Institute (CMRI). It was made possible by funding from the Medical Research Future Fund Stem Cell Mission (Chief Investigator: Associate Professor Anai Gonzalez-Cordero, CMRI), UNSW Medicine & Health, and Luminesce Alliance.
Presentation summary:
Alan discusses the value of a genetic diagnosis and the recommended pathway to receiving appropriate disease management. He provides an overview of the role of genetics and different types of inheritance.
Speaker bio:
Dr Alan Ma is a clinical geneticist at the Sydney Children's Hospital Network - Westmead. He has completed a PhD in the genomics of eye disorders, and has an active research interest in the implementation of genomics and precision medicine into the healthcare system.
For more information about the event, contact UNSW at [e-mail].
0:00 Introduction
2:56 Recommend pathway for retinal dystrophy
3:38 Role of genetics in retinal dystrophy
5:35 Genetic testing approaches
8:22 Inheritance