r(20) syndrome is considered an under-researched rare disease. There is limited information published  in medical literature, with many publications featuring single case studies and the largest cohorts for research studies (clinical and/or genetic) comprising a maximum of 25 patients. Thus it is unclear as to whether we truly yet understand the genetics (genotype), range of symptoms and associated comorbidities (phenotype), or the typical course of r(20) syndrome over an individual’s lifetime.

One of of the key aims of Ring20 Research and Support UK CIO is to seek out and promote opportunities for collaborative research, to improve knowledge and ultimately health outcomes for individuals living with r(20) syndrome around the  world.

Ring20 have developed a 4 pillar Research Strategy  which we hope will one day drive us towards precision medicine.

Research Fund Campaign

In 2017 we launched our Research Fund Campaign to raise £78,000 of funds for vital research.

So far we have raised £67,046


Checkout our UNRAVEL page for the work we are doing with Illumina to try to improve diagnostics for r(20) syndrome


We don't yet know why the ring chromosome causes seizures and other symptoms but we'd love to find out!


Read the paper we published on the use of Ketogenic Dietary Therapies in r(20)


We have funding to support a Natural History and Biomarker Study into r(20) syndrome which we hope to start in 2021