Prof Chris Vorster, the Nngwe Programme Director, will deliver a talk titled “Rare Diseases: From the Diagnostic to the Treatment Odyssey. The Journey of One Family Affected by UNC80 Deficiency” at the 21st Annual Symposium on diseases relevant to South Africa on Wednesday, 14 August 2024.
Prof Vorster has been at the forefront of metabolic research since his appointment as Director of the Centre for Human Metabolomics at North-West University in 2010. His work includes the establishment of the National Metabolomics Platform, advancing metabolic testing, newborn screening, and metabolomics services in South Africa.
In 2023, Prof Vorster expanded his impact by joining DIPLOMICS (DIstributed PLatform in OMICS) as Programme Director for Nngwe. This initiative aims to diagnose rare disease patients using locally available genomics, proteomics, and metabolomics services. Under his leadership, Nngwe is building essential infrastructure and capacity to enhance diagnostic and research capabilities for rare diseases.
Abstract
The provision of clinical and research services for rare disease patients in South Africa has traditionally been fragmented and limited. Although rare diseases individually affect small populations, they collectively impact 2% to 6% of the global population. South Africa’s historical inequalities have led to a concentration of expertise and resources in a few Centres of Excellence, which serve only a small fraction of patients in need.
An integrated approach to rare diseases is crucial for addressing these challenges. Advances in genome sequencing are providing new hope by ending the diagnostic journey for many patients. However, the transition from diagnosis to effective treatment remains a significant hurdle.
Nngwe is spearheading efforts to create a more inclusive and collaborative environment for rare disease diagnostics in South Africa. By focusing on treatment strategies that consider variant types, biochemical pathways, and shared tissue expression patterns, Nngwe aims to develop treatments that can benefit multiple rare diseases.
During the symposium, Prof Vorster will share the diagnostic journey of the Oosthuizen family, who are affected by UNC80 deficiency, offering a glimpse into the ongoing efforts to move from diagnosis to treatment for rare disease patients.
Join us online on 14 August at 12:30 here to gain insights from Prof Chris Vorster and learn about the innovative work being done at Nngwe to transform the landscape of rare disease diagnostics and treatment in South Africa, and how you can become part of Nngwe