An RD&E consultant specialising in Neurogenetics has played a pivotal role in the discovery of a new genetic form of childhood-onset dystonia, a rare progressive muscle disorder that can leave patients wheelchair-bound and can cause speech and swallowing problems. 

Dr Julia Rankin, Consultant Clinical Geneticist in the Peninsula Clinical Genetics Service based at Heavitree, discovered on routine testing two years ago that a patient with a severe movement disorder was missing a piece of chromosome number 19 containing a large number of genes.

The discovery has paved the way for clinicians to spot this form of childhood-onset dystonia more rapidly and accurately than before and direct patients more quickly to a form of treatment for the disease called Deep Brain Stimulation, which if successful can dramatically improve patients’ mobility and quality of life and reduce the need for trials of medication with side effects.