Charity partnership with Illumina Inc aims to reduce the diagnostic odyssey for individuals living with a rare epilepsy
The average time to achieve a diagnosis for a rare disease is four years. For those people living with Ring Chromosome 20 Syndrome [r(20)] a rare epilepsy – the diagnostic odyssey can be even longer (over 20 years has been reported) and it is believed that many individuals remain undiagnosed or misdiagnosed for the cause of their epilepsy.
Diagnosis is important for several reasons: better treatment options may become available to optimise health outcomes; larger cohorts of patients with a specific rare disease attract greater interest for research; and patient families can seek support from patient groups in the form of information and networks to reduce the sense of helplessness and isolation. Being unable to achieve a cause for your symptoms precludes the individual access to all the above and optimal care for improved Quality of Life.
Ring20 Research and Support UK CIO [Ring20] is excited to announce a new partnership with Illumina Inc to support awareness raising about the role of whole genome sequencing in diagnosing rare disease (use whole genome sequencing to improve the shortcomings of current r(20) diagnostic approaches and benefit many more patients and their families). A two-phase project will commence in January 2021. Phase I will focus on education and awareness activities for r(20) patient families to ask questions about their diagnosis and the possibilities of genomics (aligned with the Charity’s aims), alongside drawing up an exemplary ethical framework and consent documentation for participation in scientific research. This will enable a 2nd phase where the scientific partnership will work on unravelling the genomes of r(20) patients to identify new cases and develop an effective diagnostic test for the future.
Allison Watson co-founder of Ring20, a charity that supports people living with Ring Chromosome 20 Syndrome, an ultra-rare disease that affects her young adult son. She is also co-lead for ePAG EpiCARE ERN for rare and complex epilepsies.
“Delivering a presentation on r(20) at the Wellcome Genome Campus to an audience of rare disease researchers, scientists, healthcare professionals, industry and patient advocates, I took the opportunity to ask if anyone might be able to help with our diagnostic challenge and Illumina came forward. Fifteen months later, we are announcing a partnership with a major industry player with whom we can collaborate to try to reduce the r(20) diagnostic odyssey. If we can unravel the genome of r(20) patients we might discover more about the changes in DNA that haven’t yet been detectable and that might just hold some clues to identifying more targeted medical therapies.”
R(20) occurs in two forms with mosaic being the most common. In current practice, individuals with mosaic r(20) syndrome do not have any detectable deletions or duplications in their DNA and hence can only be diagnosed by the older cytogenetic test of karyotyping where the ‘rings’ are viewed under the microscope. Because of potential low-level mosaicism, at least 100 cells must be sent for testing – which is 3x the requirement for normal chromosome testing.
“We are deeply committed to the successful diagnosis of rare genetic conditions, and to help end the diagnostic odyssey that these patients and their families suffer in their search for answers. The challenge of diagnosing r(20) cases gives us a real opportunity to see how we can find new ways to help improve human health in chromosome disorders.”
Correspondence pieces represent the views of the authors. Unlike Articles containing original research, this Correspondence was not externally peer reviewed.
The letter will be published at …
For more information contact:
Ring20 Research and Support UK CIO
26 Headley Chase Brentwood, Essex CM14 5BN
Mob: +44 (0)7385 292797
About Ring20 Research and Support UK CIO
Ring20 Research and Support UK CIO [Ring20] are a volunteer run UK based patient group supporting families, individuals and healthcare professionals who are affected by, or who come into contact with, r(20) – an epileptic encephalopathy originating from a rare chromosome disorder characterised by difficult to treat seizures, cognitive decline and behaviour disorder.
Ring20 provide information and support services for patient families across the world via their website and regular communications, including social media. As a charity we also promote the advancement of research into this under-researched rare epilepsy syndrome and have raised funds for a Natural History and Biomarker study which we hope to commence once researchers reconvene to the desks post-COVID.
Only 200 r(20) patients in the world have been described in medical literature to-date, however with 1/30,000 to 1/60,000 live births presenting with a ring chromosome (with ring chromosome 20 being one of the more prevalent rings) the number of cases is potentially much higher.