UNRAVEL: Understanding the genetics of Ring Chromosome 20 Syndrome

Summary

Ring Chromosome 20 Syndrome or r(20) is a rare epilepsy syndrome and is thought to be under diagnosed. Most people with r(20) have learning difficulties, behaviour problems and experience difficult to treat seizures. A reliable tool is needed to make diagnosis easier. Faster diagnosis will allow doctors to manage patient care effectively.

UNRAVEL is a joint patient‐led project, driven by Ring20 Research & Support UK CIO (Ring20) patient support group, supported by Illumina, Royal Hospital for Children (Glasgow), NIHR BioResource, and Patient Led Research Hub (Cambridge). In this research study, Illumina will use a method called whole genome sequencing to investigate the ring chromosome in blood samples donated anonymously by people with r(20). This study aims to learn more about the ring chromosome to make rings easier to diagnose. These clues may assist future research to benefit patients today and in the future.

This study will provide background to a funded Natural History and Biomarker Study, led by the Royal Hospital for Children in Glasgow. Ring20 are delivering a family education programme, introducing their members to research, and describing what we hope to achieve. A paper will be written at the close of the study to share the results and findings.