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.