Interactive Session Announced
From Newborn Screening to Genome Sequencing: New Data for Ongoing Dialogue
Not just another lecture—this is your chance to join a roundtable designed for open, real-time exchange among faculty, attendees, and exhibitors.
While newborn screening has enabled earlier detection in some regions, variability in access—including within Australia—means many individuals remain undiagnosed, particularly those with later-onset conditions.
Interactive Sessions create space to examine and discuss evolving viewpoints as advances in diagnostic technologies expand how and when lysosomal diseases are identified. Attendees will gain insight into both progress and ongoing challenges in lysosomal disease detection, supporting decision-making across clinical practice and research.
We invite you to share your questions, challenges, and perspectives as we explore approaches to advancing early detection.
What this session will explore:
- The current state of newborn screening and variability in access, including within Australia
- Challenges in identifying later-onset lysosomal diseases Emerging genome sequencing approaches for broader and more timely detection
- Opportunities to improve diagnostic pathways for individuals without access to early screening across the lifespan
- Perspectives across clinical, research, and lived experience
From Newborn Screening to Genome Sequencing: New Data for Ongoing Dialogue will take place at the 4th Annual Lysosomal Disease Summit ahead of Saturday evening’s poster reception.