Prof Chris Vorster, a chemical pathologist from the North-West University’s (NWU’s) Centre for Human Metabolomics, delivered a compelling presentation at the 21st Annual Symposium on Diseases Relevant to South Africa.
Titled "Rare diseases: From the diagnostic to the treatment odyssey – the journey of one family affected by UNC80 deficiency", his talk shed light on the challenges faced by rare disease patients in South Africa. He emphasised the urgent need for a more inclusive and integrated approach to diagnosis and treatment.
"Rare diseases, although individually affecting a limited number of individuals, collectively impact between 2% and 6% of the global population. In South Africa, historical inequalities have resulted in a concentration of expertise and resources in only a few centres of excellence, leaving many patients without access to the care they desperately need," he explained.
The fragmented nature of clinical and research services for rare disease patients in South Africa has long been a concern. Prof Vorster stressed the importance of an integrated approach to overcome these challenges, pointing to advancements in genome sequencing as a beacon of hope.
"Genome sequencing is providing answers to many patients, ending their diagnostic journey. However, the real challenge lies in transitioning from diagnosis to effective treatment," he stated.
Prof Vorster is also the director of Nngwe, an initiative aiming to enhance the diagnosis of rare diseases using locally available genomics, proteomics and metabolomics services. Under his leadership, Nngwe is spearheading efforts to address these hurdles by fostering a more collaborative environment for rare disease diagnostics and treatment in South Africa.
"We are focusing on treatment strategies that consider variant types, biochemical pathways, and shared tissue expression patterns," Prof Vorster explained. "Our goal is to develop treatments that can benefit multiple rare diseases, not just one."
During his presentation, Prof Vorster also shared the poignant story of the Oosthuizen family, who have been navigating the challenges of UNC80 deficiency*. Their journey, he said, underscores the critical need to move from diagnosis to treatment, a journey that Nngwe is determined to make possible for more South African families.
"By working together and leveraging the latest scientific advancements, we can change the landscape for rare disease patients in South Africa," he added.
*UNC80 deficiency is characterised by developmental delay, neonatal hypotonia, severe intellectual disability, dysmorphic facial features, strabismus, dyskinetic limb movements, and neurobehavioral manifestations. The majority of individuals do not learn to walk.
About Prof Chris Vorster
Prof Chris Vorster has been a leading figure in metabolic research since becoming the director of the NWU’s Centre for Human Metabolomics in 2010. His contributions include establishing the National Metabolomics Platform, which offers advanced metabolic testing, newborn screening, and metabolomics services across South Africa.
In 2023, Prof Vorster expanded his influence by joining DIPLOMICS* as programme director for Nngwe. Under his leadership, Nngwe is building the infrastructure and capacity needed to improve diagnostic and research capabilities, offering renewed hope to the rare disease community in South Africa.
*DIPLOMICS (Distributed Platform in OMICS) is one of 13 research infrastructures established by the Department of Science and Innovation through its South African Research Infrastructure Roadmap.
Prof Chris Vorster.
