Consultant geneticist’s breakthrough discovery gives new hope to children

Consultant geneticist’s breakthrough discovery gives new hope to children


j-rankin

 

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.

“It’s been the most major discovery of my career,” said Julia, who joined the RD&E in 2002.

Once she had found the link between the missing piece of chromosome and dystonia, Julia began methodically gathering further information about similar patients from around the world eventually pinpointing exactly which gene was linked with dystonia. As more and more patients with the condition were identified, Julia’s collaborators at Great Ormond Street Hospital noticed that those who had been treated with Deep Brain Stimulation improved significantly – some even being able to walk again. Two years on, Julia is one of four First Authors in a paper on the findings, published in the latest edition of the prestigious journal Nature Genetics.

The work of Julia and others means new hope for those with childhood-onset dystonia, which can be difficult to diagnose and can be confused with other movement disorders such as cerebral palsy leading to misdiagnoses and ineffective treatment.

Julia said: “This is only relevant to people with childhood-onset dystonia, but it means that some patients can be more rapidly diagnosed and more rapidly signposted to potentially effective treatment. It’s very exciting.

“It shows the power of new genetic technology, like whole genome sequencing, and it shows how important it is to have clinicians who specialise in genetic disorders because diagnosing them can be very complex.”

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