For People with ataxia of Unknown Cause

For People with Ataxia of Unknown Cause

Improving diagnosis and management of gluten ataxia Study - Ataxia UK, Coeliac UK, the Sheffield Hospital Charity and the Greaves and Withey Foundation awarded funding to Professor Marios Hadjivassiliou, at the Sheffield Ataxia Centre and colleagues, to help improve the diagnosis and management of gluten ataxia. You can take part if you have suspected Gluten ataxia, or have had tests to rule out other types of ataxias.

General information about genetic tests available to diagnose ataxia can be found here.

If you would like to receive a genetic diagnostic test in Oxford, click here for more information.

To take part in genetic studies, please have a look at the following links:

Genomics England - In December 2018, it was announced that the 100,000 Genomes Project, funded by the Department of Health, had successfully reached its target to sequence 100,000 whole genomes from NHS patients across England, Wales, Scotland and Northern Ireland. Recruitment is now closed.

With this project, the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare. The results will also provide access to high quality clinical and genomic data for research, aimed at improving patient outcomes. Ataxia was one of the rare conditions eligible for the study. You can find more information about this study by visiting the 100,000 Genomes website.

Genomics England is now working towards the delivery of the new NHS Genomics Medicine Service, which aims to routinely offer whole genome sequencing on the NHS.

Genomics England hosted a webinar in which they explain the achievements of the 100,000 Genomes Project, and the ongoing work to find diagnoses for families involved. If you took part and you didn’t receive a diagnosis, they explain how you might receive a diagnosis in the future, as they make more discoveries about genetic conditions. View the webinar and read the blog here.

Exome sequencing - Newcastle