Stellenbosch University
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SU joins global search for treatment of neuromuscular disorders
Author: Sue Segar
Published: 03/08/2020

Stellenbosch University will, for the first time in the university's history, have a student working towards a PhD in neuromuscular diseases, thanks to a £105 000 (R2.2 million) grant from the Guarantors of Brain, an organisation in the UK that funds research in neurology.

Dr Kireshnee Naidu, a neurology graduate from the university, who finished last year, will start her PhD soon under the supervision of Dr Franclo Henning, senior lecturer in Neurology.

In an interview, Henning said the grant came about after the university was approached by investigators from the University College London (UCL), who, last year launched an international collaboration called the International Centre for Genomic Medicine in Neuromuscular Disorders (ICGMND).

The centre – headed by Professor Michael Hanna, Director of UCL Queen Square Institute of Neurology – brings together skills and resources from five countries with the aim of advancing the genetic diagnosis of patients with neuromuscular disorders. These include motor neurone disease, inherited neuropathies and muscular dystrophy.

The centre is collaborating with a few South African universities, besides SU, including the Universities of Cape Town, Pretoria and North-West University, as well as centres in other lower-middle-income countries, including Brazil, Turkey and India.

Their research will look into the phenotyping and genotyping of inherited neuromuscular disorders in lower-middle-income countries where genotyping has not been available up till now.

"Genetic diagnoses are becoming increasingly available, thanks to technology, but at the moment most inherited disorders cannot be treated. Only those related to inherited enzyme deficiencies can be treated.

"We have no idea what the genetic landscape in South Africa is like with regard to inherited disorders – of which neuromuscular disorders are just one example – because we've never been able to apply modern genetic analysis outside of research and on a small scale in this country.

"Through this project, we are going to be able to genotype all our patients with inherited neuromuscular disorders, so we will get a better idea of what forms of neuromuscular disorders we see. Of course it is very likely that the mutations causing these disorders in our population is different from high-income countries as we have a different population make up. In addition, we are able to contribute, through data sharing, to the global research community in search of treatments for these conditions," said Henning.

"Part of the project involves the training of a PhD fellow, which is the position which Naidu is taking up."

"This is an awesome opportunity because we would not be able to train a PhD fellow without this kind of funding, as it covers salary and tuition fees for a period of three years," said Henning. “This has never been possible in the past. We are excited that this will be the first PhD in neuromuscular diseases that will be done at this university.

"All in all it is a really great opportunity for us to pursue."

Photo credit: PIXABAY