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Study finds biomarker that could speed up diagnosis of Motor Neurone Disease

27/06/2018
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A study conducted at the John Radcliffe Hospital has uncovered a potential new way of diagnosing amyotrophic lateral sclerosis (ALS), or motor neurone disease (MND).

The study, 'Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis' was published in the journal EBioMedicine, the peer-reviewed open-access arm of the Lancet and Cell Publishing Groups.

It was a collaboration between the biotechnology company Oxford BioDynamics (OBD), the University of Oxford's Nuffield Department of Clinical Neurosciences and Harvard Medical School. Much of the work was undertaken at the Oxford Motor Neurone Disease Care and Research Centre, at the John Radcliffe.

In the study, OBD's EpiSwitch™ platform was used to compare the genomic architecture of healthy and ALS patient samples to discover an epigenetic biomarker, called a chromosomal conformation signature (CCS). The study successfully yielded a distinct CCS biomarker that was diagnostic for ALS, demonstrating a highly promising, potential new approach to the diagnosis of this disease.

ALS, also known as Lou Gehrig's disease, is a progressive, neurodegenerative disorder characterised by muscle weakness and eventual paralysis. There is currently no definitive, clinically validated measure to identify ALS.

Doctors perform a series of exclusion tests which often leads to a significant delay in diagnosis, averaging one year from the onset of symptoms. ALS is a rapidly progressing disease therefore this delay can have a significant clinical and lifestyle impact on patients.

This delay may also limit the recruitment of patients with early phase disease into clinical trials.

Dr Alexandre Akoulitchev, Chief Scientific Officer of Oxford BioDynamics, and corresponding author commented: "There is currently no definitive method for the differential diagnosis of ALS, which has proven to be extremely challenging given the very heterogeneous profiles, variable prognosis, and several potential sub-types of the disease.

"We are pleased that through our collaboration with leading world experts and institutions, we have successfully developed blood-based epigenetic biomarkers that provide new insights into disease mechanisms and have the potential to be used as a rapid and effective diagnostic test for this disease. We believe it will make an important contribution both to patient care and to therapeutic development."

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