1st South African Gene causing

retinal blindness discovered

                                                                                                                                                                               

29th June 2001

 

 

 

Research findings by South African geneticists have resulted in an international consortium of researchers making a major genetic discovery.

 

The South African team lead by Professors Raj Ramesar and Jacquie Greenburg of the Division of Human Genetics at the University of Cape Town, did the essential work towards identifying the general position of the gene from DNA samples from dozens of South Africans affected by Retinitis Pigmentosa (RP).

 

This inherited form of retinal blindness starts with night blindness and poor contrast vision, leading to tunnel vision and eventually total blindness.  The collaborative between the UCT research group and UK scientists led to the identification of the actual gene defect in the laboratory of Dr Chris Inglehearn, in Leeds (United Kingdom).  The newly described disease-causing gene (RP13) is remarkable in that every cell in the body uses the protein (PRP8) produced by the gene.  However, people with defects in this gene apparently have only retinal problems.

 

Hopefully this breakthrough will help researchers understand the complex mechanisms involved in retinal degeneration and also create pathways for possible future therapies.  It may also help pharmaceutical companies develop drugs to slow or stop the progression of the visual loss.

 

Retinal Degenerations, such as RP and Macular Degeneration affect thousands of South Africans and millions of people worldwide.  The genetic research at the University of Cape Town is funded by The Retinal Preservation Foundation of South Africa – soon to be renamed – Retina South Africa.  The British RP Society funds the Leeds work.

 

National Secretary of the RP Foundation, Claudette Medefindt (herself affected by a defect in the ‘culprit’ gene) said “ We would like to thank all our sponsors and supporters who have made this breakthrough possible.  Imagine if this knowledge was available 25 years ago, it could have prevented my passing the gene mistake to my two sons. Thankfully the sight of their offspring is now assured. This is true for dozens of young South Africans carrying this particular gene mutation. The international progress over the last 3 years offers hope to all South Africans affected by Retinal Blindness.”

 

These finding will be published in the July issue of the International Journal – Human Molecular Genetics.

 

For more information, please contact:          Claudette Medefindt – Cell: 083 306 5262

                                                            Alta – Cell: 082 427 8240                                                                                                                                          Sandy – Tel: (011) 622 4904

                                                            Fax: (011) 622 6277

                                                            E-Mail: national@rpsa.org.za