Ongoing Research
While we work hard to make day-to-day life better for our CS children and families now, others are working just as hard to make life better for their future. The following nonprofits are supporting preclinical studies around the world.
Riaan Research Initiative is a nonprofit organization founded by Jo Kaur, the mother of Riaan, an adorable boy who has been diagnosed with Cockayne Syndrome Type A. Their mission: "to accelerate the development of treatments for Cockayne syndrome. We seek to identify, promote, and/or fund cutting-edge, intelligent, innovative, and thoughtful research proposals aimed at aggressively and effectively translating therapies from the bench to the bedside, including the use of N-of-1 trial models. Such therapies may include gene therapy, gene editing, and/or drug repurposing screens." Currently they are collaborating with researchers at UMass Chan on a pre-clinical gene therapy study for the CSA (ERCC8) gene.
"Viljem Julijan Association for Children with Rare Diseases is a registered non-profit charity organization from Slovenia, European Union. It was established in 2018 by Gregor Bezenšek (musician SoulGreg Artist) and his wife Nina, parents of a boy Viljem Julijan who in 2019 died from rare genetic disease GM1 gangliosidosis. Their mission: "to develop gene therapy for Cockayne syndrome type B through funding research and development of gene therapy. Our mission was initiated by 5-years old girl Karolina who has Cockayne syndrome – type B and with her parents we wish to save her life. We have partnered with two research team, one in the US and the other Portugal. Both groups are currently conducting pre-clinical therapy studies for the CSB (ERCC6) gene."
"Amy and Friends was formed to support children/young adults and families suffering from Cockayne Syndrome and linked DNA repair disorders. We meet with families and specialists to share experiences, and knowledge and to gain support from each other.
As a charity, we have been primarily patient support focused. We also work in collaboration with scientific and medical professionals across the globe to aid research. We aim to engage with rare disease research, to share experience and knowledge of our genetic conditions with others, and to network with similar organizations."