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.