Breakthrough in diagnosing life-changing diseases

University of Manchester researchers are developing a non-invasive diagnostic test that may be able to diagnose early Parkinson's disease.

Parkinson’s is a progressive neurological condition that affects 127,000 people in the UK and 7.5 million worldwide, leaving many patients struggling to walk, speak and sleep.

The lack of a definitive test for Parkinson’s means that, typically, too many neurons in the brain are lost irretrievably by the time of diagnosis, making treatment difficult and a cure impossible

In a collaborative programme funded by the Michael J Fox Foundation and Parkinson’s UK, researchers from the Manchester Institute of Biotechnology (MIB) are undertaking investigations to identify novel small molecules from sebum – an oily substance found in the skin – which are believed to emit a subtle but unique scent in patients in the early stages of Parkinson’s.

Research was inspired by the case of Les Milne, a Parkinson’s patient, whose wife Joy began to notice a change in her husband’s scent more than six years prior to his diagnosis and then recognised the same “woody, musky odour” on patients at a Parkinson’s UK awareness lecture many years later.

A pilot study involving parallel investigations that showed there are different chemicals present on the skin surface of people with and without Parkinson’s confirmed this breakthrough. 

Using state-of-the-art mass spectrometry technology to analyse skin swabs taken from people with and without Parkinson’s the research team then analyse the data to identify the small-molecule components present on the skin to identify specific biomarkers found in Parkinson’s disease.

Professor Perdita Barran, who is leading the research team at MIB, says:

"The sampling of the skin’s surface provides a rich source of metabolites that we can mine to distinguish healthy patients from those in the early stages of Parkinson’s. In parallel, we’re using ‘human detectors’ drawn from individuals who have exceptional smelling abilities. The combined analytical and human approach is helping us to grade identical samples that will hopefully pinpoint which molecular changes in the skin might be producing the unique odour found in Parkinson’s sufferers.

This could enable early, non-invasive diagnosis – perhaps even before physical symptoms occur.”

Proving that there is a unique odour associated with Parkinson’s could mean: early, non-invasive diagnosis of millions of patients worldwide, boosting their chances of effective treatment and a greater quality of life; easier identification of people to test drugs that may have the potential to slow, or even stop, Parkinson’s – something no current drug can achieve.