Prion disease, the boogieman of dementia, may soon lose some of its terrifying mystique, as researchers begin to unlock the secrets of its onset and the signs of latent disease.
The Florey Institute of Neuroscience and Mental Health’s Australian National Creutzfeldt-Jakob disease (CJD) Registry’s Research Officer, Dr Laura Ellett, has been awarded a grant worth more than $700,000 to accelerate the discovery of early markers of prion disease in the body that may be detectable before severe illness takes hold.
Prion diseases are caused by misfolded, infectious proteins that corrupt other healthy proteins in the body.
They are a family of rare dementias which are characterised by extremely rapid onset – most patients pass away within six months from the first sign of dementia and/or neurodegeneration.
Currently, prion diseases are untreatable and always fatal.
The infectious proteins can also linger dormant in the body for decades before activating to devastating effect, meaning early detection could revolutionise prion disease treatment.
The eye as the window to the body
The involvement of the retina, or back of the eye, in prion disease has been understood for over thirty years, although there have been no studies on living patients using the current analysis methods available to The Florey Institute now.
In a world-first, researchers will apply new imaging techniques to models of prion disease and begin a pilot study with people known to carry a risk of predisposition to prion disease.
The Institute says that promising treatments for prion disease are entering clinical trials, but the mechanism by which they work would benefit greatly from early detection and treatment prior to the onset of symptoms.
The undetectable, dormant nature of prion disease coupled with the difficulty in treating it make it very difficult to carry out research on this area of disease.
“We are hoping to contribute to early detection of prion disease so that novel treatments can be implemented before patients get severely unwell as this will make a huge improvement to patient outcomes,” Dr Ellet said.
“We believe that these novel retinal imaging techniques will allow us to monitor changes which are happening in the body during prion disease progression and enable us to identify prion disease in its early stages.”