Home > Our Research > Inherited Ataxias
Our Research

Inherited Ataxias

The inherited Spinocerebellar ataxias (SCAs) are a broad group of inherited neurodegenerative diseases characterized by selective cerebellar degeneration and other neurological symptoms. In South Africa, the main research focus has been on SCA type 7. This disorder is dominantly inherited and caused by the expansion of a CAG repeat in the ataxin-7 gene. The translation of this repeat leads to an extended polyglutamine tract within the downstream protein, resulting in SCA7 being classified as a polyglutamine repeat disorder. The SCA7 project aims to investigate the molecular pathogenesis of SCA7 through the generation of patient-derived disease-relevant cell types (neuronal cells, RPE and photoreceptors differentiated from iPSCs), with a view to developing and refining gene-silencing therapies for the disease. The iPSC-derived models generated will thus also be used as pre-clinical cellular models, to determine therapeutic efficacy and safety, in preparation for future clinical trials.

The inherited ataxia group is led by Professor Jacquie Greenberg.  Drs Lauren Watson and Danielle Smith completed their PhDs in the ataxia group, focussing on the development of iPSC-derived neuronal and photoreceptor models of SCA7.  In 2014 Dr Robea Ballo and Sylvia Kamanzi-Wa joined the project. Sylvia is completing a PhD project to investigate the involvement of RPE in SCA7 pathogenesis.


Visit the Human Genetics website for more information.