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Our Department collaborated with Oxford BioDynamics and Massachusetts General Hospital, Harvard Medical School.

Als

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. 

We are pleased that through our collaboration with leading world experts and institutions, we have successfully developed blood-based epigenetic biomarkers that 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.
Dr Alexandre Akoulitchev, Chief Scientific Officer of Oxford BioDynamics

Researchers from the Oxford Motor Neuron Disease Centre in our Department have been involved in a study with biotechnology company Oxford BioDynamics (OBD). The team used OBD's EpiSwitch™ platform to compare the genomic architecture of healthy and ALS patient samples to discover an epigenetic biomarker, called a chromosomal conformation signature (CCS), with diagnostic potential in ALS.

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.

Read the full paper here