North West University

Centre for Human Metabolomics, Professor of Biochemistry and Deputy Director of School of Physical and Chemical Sciences, North-West University, Potchefstroom, South Africa

Centre Principal Investigator:

Professor Francois H van der Westhuizen, PhD

Genetics and preclinical science expertise and facilities:

Our centre hosts several diagnostic and research laboratories involved in rare inherited diseases in South Africa (http://natural-sciences.nwu.ac.za/human-metabolomics). These are the Potchefstroom Laboratory for Inborn Errors of Metabolism (PLIEM), the New-born Screening Laboratory, the National Metabolomics Platform, and specialist laboratories such as the Mitochondria Research Laboratory (http://natural-sciences.nwu.ac.za/mitochondrial-laboratory/research-focus). These laboratories serve South African and African populations with biochemical, metabolic molecular genetic diagnostics and research. The centre has established networks and collaborations on the continent and abroad and use state-of-the-art genomic (Ion Torrent based) and metabolomic infrastructure and bioinformatics.

Current research programmes:

Although the centre's diagnostic services encompass a wider scope of rare inherited diseases, the main research program is on mitochondrial disease (MD) in the African population. The main themes of research are on the diagnostic approaches and aetiology of MD in the South African population, genotype-phenotype variation, metabolomics & biomarker/biosignature identification for MD, and the use of disease models to study adaptive responses and therapeutic interventions in MD.

Top five publications from the past five years:

Baynam G, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles Selebatso E, Selebasto M, Gaobinelwe B, Selebasto T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin C, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan E, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Agulló SB, Kosaki K, van Karnebeek KDM, Gong M, Shuyang Z, Shai R, Adams DR, Puri R, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott K and Posada M. 2020. A call for global action for rare diseases in Africa, Nature Genetics 52, 21-26.

Schoonen M, Smuts I, Louw R, Elson JL, van Dyk E, Jonck L-M, Rodenburg R, van der Westhuizen FH. 2019. Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse paediatric patient cohort with mitochondrial disease. Journal of Molecular Diagnostics 21, 503-513. 

Terburgh K, Lindeque JZ, Mason S, van der Westhuizen FH, Louw R. Metabolomics of Ndufs4¬/¬ skeletal muscle: adaptive mechanisms converge at the ubiquinone-cycle. 2019. BBA - Molecular Basis of Disease 1865, 98-106.

Louw R, Smuts I, Wilsenach, K-L, Jonck L-M, Schoonen M, van der Westhuizen FH. The dilemma of diagnosing Q10 deficiency in muscle. 2018. Molecular Genetics and Metabolism 125, 38-43.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck L-M, Dercksen M. 2018. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. Journal of the Neurological Sciences 384, 121-125.

How the new international centre will benefit research and clinical programmes:

The involvement of our South African network of participants in the ICGNMD has the potential to greatly improve the clinical and genetic diagnostic serves offered to SA patients with NMD. We would also like to contribute to the global knowledge on the aetiology and, ultimately, treatment of NMD. Specifically for my centre, participating in a national and global effort such as this, will allow us to contribute to research and diagnostic efforts with greater impact and more effective outcomes for our communities.