PNRI Science Matters Seminar:  Omic-Driven Precision Care in South Africa

Shahida Moosa, MBBCh, PhD of Tygerberg Hospital and Stellenbosch University will discuss 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, recent work has demonstrated the power of integrating 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 a diagnostic odyssey.

PNRI’s Science Matters free, virtual seminars feature discussions with scientists around the globe about exciting research in genetics, genomics, and evolutionary biology with important societal impact. Topics include research on the genetics of ethnically diverse populations, diseases afflicting vulnerable or underserved groups, and efforts to expand the diversity (broadly defined) of research subjects or the scientific workforce.