Biotechnology comes to SA to combat blindness

South Africa commemorates National Disability Rights Awareness Month annually between November 3 and December 3.  December 3 is the International Day of Persons with Disabilities, and is also commemorated as National Disability Rights Awareness Day.

According to a press release from Retina South Africa, the right to an accurate diagnosis is entrenched in the World Health Organisation Patient charter.

For thousands of South Africans affected by Inherited Retinal Disorders this right has until now been merely a dream. For affluent patients with medical insurance a visit to an eye specialist in private practice equipped with the latest investigative equipment, a clinical diagnosis at least, was achievable. For less affluent patients months of waiting to see an eye specialist at a state eye clinic is merely the first step in a protracted journey filled with frustration and disappointment.  As in many other departments in state hospitals the eye clinics are understaffed and underfunded leading to inadequate diagnosis. This, coupled with the fact that Inherited Retinal Disorders’ [IRD] are at this time largely untreatable leaves the patients- truly in the dark.

Promising treatments and therapies to treat the estimated 17 000 South Africans, and millions of people world- wide affected by these conditions are showing remarkable results. Treatments involving gene replacement therapy, new retinal cells grown from stem cells and the re-programming of other neural cells to replace the dying photoreceptors is now a reality in clinical trials. The problem for researchers has been the genetic diversity of this group of conditions which include Retinitis Pigmentosa [RP], Macular Dystrophies and Usher Syndrome – a form of Deaf-Blindness.

To identify South African patients who will be eligible for these imminent therapies an identification of the precise gene defect in every patient is required and this is the most complicated part of an accurate diagnosis. Until recently all genetic testing has had to be done overseas to find which one of over 250 likely genes carried the mutation that caused vision loss and ultimately functional blindness. This was done with the support of the Division of Human Genetics at the University of Cape Town and Retina South Africa who facilitated the tests. A tribute to their passion and innovation meant that thousands have been tested and hundreds of patients now have a genetic diagnosis- a ticket to the therapy train.

The good news part of this story is that this same passion coupled with generous support from the National Research Foundation is about to change the lives and outlook for thousands of South Africans. The NRF has sponsored a state of the art Next Generation Sequencing machine which is able to search for these genetic mutations. Customising the Bio Technology to identify only the retinal blindness gene mutations has  been made possible by support from the Dis-Chem Foundation and thousands of cyclists who have cycled for many years to restore the gift of sight at the annual Dis-Chem Ride for Sight. The IRD Diagnostic panel will be operational from November 3rd at half the price of overseas testing and in a shorter time frame.  Retina South Africa has some sponsorship for testing costs of financially disadvantaged youth – who stand to gain the most from interventions such as gene therapy.

Professor Raj Ramesar, HOD and Head of Pathology at UCT said “It is gratifying working at the cutting edge of the field of human genomics – this is made extra special when one can translate the years of research to the benefit of patients and families.  The Division of Human Genetics at UCT has since its inception worked with support groups such as Retina South Africa towards doing research with a specific patient-related need in mind.  It is likely that IRDs will be one of the primary beneficiaries of our research programme in this era of Precision Medicine where the accurate genetic diagnosis is an imperative before being considered for any therapeutic”

Lynette Saltzman of the Dis-Chem Foundation said “Any cause that is able to help people retain the important sense of sight is one that we are pleased to support and we are grateful to the cyclists that have joined the Foundation in this initiative to help restore sight to the unfortunate people in South Africa.”

James Cape National Chairman of Retina South Africa is delighted at the establishment of a Diagnostic panel at UCT.  “This is the first such technology in Africa and we at Retina South Africa are extremely proud to have achieved this objective with the support of Professor Raj Ramesar and his colleagues at UCT, our sponsors and friends.  We thank the Dis-Chem Foundation for their support of this project. This panel will allow us to offer genetic testing to patients throughout the sub-continent at an affordable price’”

Retina South Africa estimates that there are around 10 million unsuspecting carriers in South Africa of a single gene mutation for various forms of retinal degeneration. The first ever ocular gene therapy has just been registered in the USA to treat a rare but devastating form of IRD. This is merely the first and many more will soon follow. Claudette Medefindt, head of Science for Retina South Africa appeals to South Africans to assist. “There are dozens of clinical trials effectively treating hundreds of patients internationally. With the help of caring South Africans, we can bring these successful trials and imminent therapies in the areas of gene therapy and stem cells to South Africa. If we treat the estimated 17 000 young South Africans losing their vision to genetic retinal blindness we can save 1 million blind years.”

South Africans can support this research via the website

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