Riaan Research Initiative

Riaan Research Initiative is dedicated to promoting and furthering translational scientific research to advance treatments for severe and life-limiting genetic disorders. They aim to help support and fund translational research into gene replacement therapy for genetic mutations in the ERCC8/CSA gene, which causes Cockayne Syndrome, a devastating and fatal neurodegenerative disease.

Learn more about their current projects

What is Cockayne Syndrome?

‚ÄčCockayne Syndrome is a complex multi-system disorder representing a failure in DNA transcription and repair. Cockayne Syndrome cases arise from mutations in the CSA/ERCC8 gene and the CSB/ERCC6 gene. 

The disease has a relentless and vicious pathogenesis, causing neurodegeneration, vision and hearing loss, global developmental delays, growth failures, ataxia, and tremors. It is also ultra-rare, impacting a few hundred children and adults worldwide. Children with Cockayne Syndrome tend to die from respiratory ailments and/or kidney failure. There are no known treatments or therapies.

Latest News and Research on Cockayne Syndrome