Queen Square Centre for Neuromuscular Diseases


Genome sequencing for neuromuscular diseases

1 July 2013

Genomics England whole genome sequencing - an opportunity for rare disorders Genomics England is a project set up by the Department of Health that is due to start in January 2014.

The goal is to identify the genetic cause for all rare genetically undefined disorders and to sequence patients and families' genomes to help with diagnosis and the development of future treatments.

This is a very important opportunity for patients with neuromuscular disorders to have their genome sequenced in order to maximise their chance of a genetic diagnosis. This will be important for future treatments. Please click here for further information on how to have your genome sequenced.

100k Genome Project Information

Patient Information Leaflet Adult

Patient Information Leaflet 11-15 Years

Patient Information Leaflet 6-10 Years