Calcifade Study

Study Name: Uncovering the role of MYORG

Name of the researchers: Dr Richard Meek (UK)

Cost/funding of the study: £124,990

Location of Study: University of Southampton

Who can be involved?:

We are always interested in talking to and working with clinicians, especially if they have identified any novel Fahr's disease-associated genes or variants.

Aim of the study:

Development of Fahr's disease is linked to mutations in any of seven known genes. These genes provide instructions for building proteins that regulate many processes within the brain. Mutations within these genes can lead to the proteins they encode not functioning correctly, leading to disease through poorly understood mechanisms. This project, funded by the Academy of Medical Sciences, leverages cutting-edge techniques to better understand how Fahr's associated proteins contribute to disease pathology. The project also aims to develop new chemical probes and methodologies that can be used by researchers to unpick disease mechanisms. To design effective treatments, it is essential to understand the fundamentals of disease, and this research aims to lay the foundations for future studies that can develop therapeutic strategies.

For more information contact: r.w.meek@soton.ac.uk