An article published in the Lancet Neurology showed that whole genome sequencing (WGS) can detect common inherited neurological disorders, including some ataxias. Genetic testing can be a slow process, with a number of tests sometimes required to provide a diagnosis. However, this study showed that WGS (a different type of genetic testing) can quickly and accurately detect common neurological conditions. This has the potential to reduce the ‘diagnostic odyssey’ that a lot of people with rare conditions face.Â
Previously, it was thought that repeat expansion disorders could not be detected using WGS. Repeat expansion disorders are conditions caused by an expansion in a repeated section of DNA. This includes a number of ataxias including Friedreich’s ataxia (FA) and some Spinocerebellar ataxias (SCAs). However, this study showed that it is possible to diagnose these conditions using WGS. WGS is available through the NHS Genomic Medicine Service.
Prof Paola Giunti said ‘It is amazing to have the diagnosis of different ataxias facilitated by this new technique, which has been established also with the involvement of the London Ataxia Centre’.
Eileen, a patient at the London Ataxia Centre, was diagnosed with FA through this study. See this article from The Guardian article to read Eileen’s story, and see the full research article here.
Posted on 17/02/2022
