South Africa

The ICGNMD is fortunate to have four partners in South Africa, a country noted for a significant genomic diversity currently under-represented in international datasets. The three clinical Centres face common challenges, that include (i) patient populations from large geographical areas with limited transport infrastructures that can impact on clinic attendance, (ii) significant co-morbidity, and (iii) significant socio-economic hardship, which may impact on provision of mobility and functional aids. Notwithstanding such challenges, the South African partners and National Health Laboratory Service maintain genetic testing services for some patients with neuromuscular diseases (NMDs), in addition to exciting clinical and academic research in the field. The ICGNMD will build on established centres of excellence to further advance clinical genomics research and diagnosis of NMDs, and to this end supports 3 ICGNMD Fellows across the different sites.