Welcome to our research project in investigating the relationship between DNA repair genes and the age of onset of multiple types of ataxia. Research is the only way we can achieve our mission: to see a world free of ataxia, and you can help us achieve that. Read below to discover more about this project, request a copy of a fundraising leaflet to disseminate to potential donors, or donate below to support this project. 

The project

Background

Spinocerebellar ataxias (SCAs) 1, 2, 3, 6, 7 and 17 are genetic disorders caused by expansions in the genes which cause ataxia. Longer expansions can be associated with an earlier age of onset in SCA patients but additional factors may also be involved. Recent studies investigating genetic factors modifying the age of motor onset in Huntington's disease (also caused by a gene expansion), have reported an association between DNA repair pathways and the age at disease onset. The research team at UCL have also found this association in some SCAs. 

Aim

The project will investigate the association between DNA repair genes and the age of onset of ataxia. it aims to understand the molecular mechanisms behind it and develop ways of modifying these mechanisms. the team will look at the aforementioned SCAs as well as Freidrech's ataxia, SCA8 and SCA12. 

Impact

This project is expected to identify novel therapeutic pathways that may delay multiple ataxias. it could also lead to the identification of genes that cause ataxia and thus specific diagnoses for patients. 

Request a leaflet

Get in touch with our research department via [email protected] to request copies of leaflets, helping you to disseminate easily to potential donors. 

Please be aware that if we raise over the target amount for this project, we will put the extra funds towards another research project dedicated to FA.