Head: Medical Genetics – Tygerberg Hospital , Head: Rare Disease Genomics research group, Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital
Unlocking anti-tumor immunity: defining novel regulators of Omics-driven Precision Medicine for Rare Diseases in South Africa
Host: L. Donaldson
Abstract
The presentation will cover the growing role of omics-driven precision care in South Africa, and how these advances are transforming the landscape of rare disease diagnosis and management across the lifespan.
Through the Undiagnosed Disease Programme, we have seen first-hand how powerful it can be to integrate multiple layers of genomic technology: from exome and genome sequencing to long-read platforms and RNA sequencing, to uncover the molecular basis of rare and previously undiagnosed conditions. In a setting as diverse and complex as South Africa, where genetic variation is vast and healthcare resources constrained, these tools do more than generate data: they create answers, enable tailored care, and provide long-awaited clarity for families who have spent years on diagnostic odyssey.
International Seminar Programme
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